Representation of typical and atypical haplotype compositions within the HPRC cohort. (A) The identified novel alleles with variances in the CDS of KIR genes. Blue indicates alleles with synonymous variants, and orange indicates alleles with nonsynonymous variants. Counts of 2DS3 and 2DS5 were observed in the centromeric region. The pie chart only counts novel alleles of functional KIR genes, excluding fusion genes. (B) Haplotype counts with novel alleles identified. The number in each bar indicates the cumulative number of haplotype counts containing at least the number of novel alleles specified on the x-axis. There were five haplotypes with 10 novel alleles, and all 94 haplotypes contained at least two novel alleles. (C–G) Representative KIR haplotypes compositions within the HPRC cohort. (C) HG002 paternal (HG002-P) and maternal (HG002-M) haplotypes. The paternal haplotype of HG002, a typical cA01-tB01 haplotype, is presented from the centromeric to the telomeric motifs without deletions, duplications, ambiguities, and other structural variations. (D) The paternal haplotype of HG00733 features a duplication of KIR3DP1-KIR2DL4-KIR3DL1/S1, integrated into a cB01-tA01 haplotype. (E) The maternal haplotype of HG01243 is distinguished by the absence of both the KIR3DP1 and KIR2DL4 framework genes. (F) The paternal haplotype of HG00741 is characterized by the deletion of both the KIR3DP1 and KIR2DL4 framework genes as well as a truncated KIR3DL2 gene containing only exons 1–3. (G) The maternal haplotype of HG03540 is marked by a deletion of KIR3DL2 framework gene with an African high-frequency KIR3DL1 allele resulting from a deletion between KIR3DL1 and KIR3DL2. Purple represents framework genes; red, duplicated genes; blue, nonframework genes; and gray, pseudogenes. (#) An allele having nonsynonymous variant(s) in CDS, segmental deletion, or fusion with another gene; ($) an allele having variant(s) in non-CDS; and (+) a genomic allele matching an IPD-KIR CDS-only allele. The percentage (%) represents the proportion of identical base pairs in the CDS of the KIR gene loci to the assigned allele in a nonsynonymous allele or pseudogene case.