Canonical Allele Identifier: CA449790736

Gene: HLA-B

Linked Data

• gnomAD v2: 6-31323362-TG-T
• gnomAD v3: 6-31355585-TG-T
• gnomAD v4: 6-31355585-TG-T
• COSMIC: COSM1443264
• MyVariant Identifiers: chr6:g.31323363del (hg19) ; chr6:g.31355586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31355591del , CM000668.2:g.31355591del	GRCh38
NC_000006.11:g.31323368del , CM000668.1:g.31323368del	GRCh37
NC_000006.10:g.31431347del	NCBI36
NG_023187.1:g.6627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474381.2:n.2673del
ENST00000481849.6:n.2099del
ENST00000497377.6:n.2099del
ENST00000640094.2:c.626del	ENSP00000491275.2:p.Pro209GlnfsTer5
ENST00000696558.1:c.695del	ENSP00000512716.1:n.695del
ENST00000696559.1:c.626del	ENSP00000512717.1:p.Pro209GlnfsTer5
ENST00000696560.1:c.626del	ENSP00000512718.1:p.Pro209GlnfsTer5
ENST00000696561.1:c.626del	ENSP00000512719.1:p.Pro209GlnfsTer5
ENST00000696562.1:c.626del	ENSP00000512720.1:p.Pro209GlnfsTer5
ENST00000412585.7:c.626del MANE Select	ENSP00000399168.2:p.Pro209GlnfsTer5
ENST00000412585.6:c.626del	ENSP00000399168.2:p.Pro209GlnfsTer5
ENST00000434333.1:c.659del	ENSP00000405931.1:p.Pro220GlnfsTer5
ENST00000463574.1:n.217del
ENST00000474381.1:n.1075del
ENST00000498007.1:n.892del
NM_005514.6:c.626del	NP_005505.2:p.Pro209GlnfsTer5
XM_011514556.1:c.659del	XP_011512858.1:p.Pro220GlnfsTer5
XM_011514557.1:c.626del	XP_011512859.1:p.Pro209GlnfsTer5
XR_926175.1:n.1065del
NM_005514.7:c.626del	NP_005505.2:p.Pro209GlnfsTer5
NM_005514.8:c.626del MANE Select	NP_005505.2:p.Pro209GlnfsTer5