Canonical Allele Identifier: CA823878851

Gene: HLA-B

Linked Data

• dbSNP Id: rs1317836901
• gnomAD v4: 6-31355466-GTT-G
• MyVariant Identifiers: chr6:g.31323244_31323245del (hg19) ; chr6:g.31355467_31355468del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31355468_31355469del , CM000668.2:g.31355468_31355469del	GRCh38
NC_000006.11:g.31323245_31323246del , CM000668.1:g.31323245_31323246del	GRCh37
NC_000006.10:g.31431224_31431225del	NCBI36
NG_023187.1:g.6745_6746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474381.2:n.2791_2792del
ENST00000481849.6:n.2217_2218del
ENST00000497377.6:n.2217_2218del
ENST00000640094.2:c.744_745del	ENSP00000491275.2:p.Gln248HisfsTer5
ENST00000696558.1:c.813_814del	ENSP00000512716.1:n.813_814del
ENST00000696559.1:c.744_745del	ENSP00000512717.1:p.Gln248HisfsTer5
ENST00000696560.1:c.744_745del	ENSP00000512718.1:p.Gln248HisfsTer5
ENST00000696561.1:c.744_745del	ENSP00000512719.1:p.Gln248HisfsTer5
ENST00000696562.1:c.744_745del	ENSP00000512720.1:p.Gln248HisfsTer5
ENST00000412585.7:c.744_745del MANE Select	ENSP00000399168.2:p.Gln248HisfsTer5
ENST00000412585.6:c.744_745del	ENSP00000399168.2:p.Gln248HisfsTer5
ENST00000463574.1:n.335_336del
ENST00000498007.1:n.1010_1011del
NM_005514.6:c.744_745del	NP_005505.2:p.Gln248HisfsTer5
XM_011514556.1:c.777_778del	XP_011512858.1:p.Gln259HisfsTer5
XM_011514557.1:c.744_745del	XP_011512859.1:p.Gln248HisfsTer5
XR_926175.1:n.1183_1184del
NM_005514.7:c.744_745del	NP_005505.2:p.Gln248HisfsTer5
NM_005514.8:c.744_745del MANE Select	NP_005505.2:p.Gln248HisfsTer5