Canonical Allele Identifier: CA136833901

Gene: HLA-B

Linked Data

• dbSNP Id: rs376871308
• gnomAD v3: 6-31356246-CCG-C
• gnomAD v4: 6-31356246-CCG-C
• COSMIC: COSM4690638
• MyVariant Identifiers: chr6:g.31324024_31324025del (hg19) ; chr6:g.31356247_31356248del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31356248_31356249del , CM000668.2:g.31356248_31356249del	GRCh38
NC_000006.11:g.31324025_31324026del , CM000668.1:g.31324025_31324026del	GRCh37
NC_000006.10:g.31432004_31432005del	NCBI36
NG_023187.1:g.5965_5966del

Transcript Alleles

HGVS	Amino-acid change
ENST00000474381.2:n.2011_2012del
ENST00000481849.6:n.2011_2012del
ENST00000497377.6:n.2011_2012del
ENST00000640094.2:c.538_539del	ENSP00000491275.2:p.Arg180GlufsTer27
ENST00000696558.1:c.538_539del	ENSP00000512716.1:p.Arg180GlufsTer27
ENST00000696559.1:c.538_539del	ENSP00000512717.1:p.Arg180GlufsTer27
ENST00000696560.1:c.538_539del	ENSP00000512718.1:p.Arg180GlufsTer27
ENST00000696561.1:c.538_539del	ENSP00000512719.1:p.Arg180GlufsTer27
ENST00000696562.1:c.538_539del	ENSP00000512720.1:p.Arg180GlufsTer27
ENST00000412585.7:c.538_539del MANE Select	ENSP00000399168.2:p.Arg180GlufsTer27
ENST00000412585.6:c.538_539del	ENSP00000399168.2:p.Arg180GlufsTer27
ENST00000434333.1:c.571_572del	ENSP00000405931.1:p.Arg191GlufsTer27
ENST00000474381.1:n.413_414del
ENST00000498007.1:n.804_805del
NM_005514.6:c.538_539del	NP_005505.2:p.Arg180GlufsTer27
XM_011514556.1:c.571_572del	XP_011512858.1:p.Arg191GlufsTer27
XM_011514557.1:c.538_539del	XP_011512859.1:p.Arg180GlufsTer27
XR_926175.1:n.548_549del
NM_005514.7:c.538_539del	NP_005505.2:p.Arg180GlufsTer27
NM_005514.8:c.538_539del MANE Select	NP_005505.2:p.Arg180GlufsTer27