Canonical Allele Identifier: CA3711388

Gene: HLA-B

Linked Data

• dbSNP Id: rs748204482
• ExAC: 6:31323362 T / TG
• gnomAD v2: 6-31323362-T-TG
• gnomAD v3: 6-31355585-T-TG
• gnomAD v4: 6-31355585-T-TG
• COSMIC: COSM1254260 ; COSM5494349
• MyVariant Identifiers: chr6:g.31323363_31323364insG (hg19) ; chr6:g.31323362_31323363insG (hg19) ; chr6:g.31355586_31355587insG (hg38) ; chr6:g.31355585_31355586insG (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474381.2:n.2673dup
ENST00000481849.6:n.2099dup
ENST00000497377.6:n.2099dup
ENST00000640094.2:c.626dup	ENSP00000491275.2:p.Thr211AspfsTer10
ENST00000696558.1:c.695dup	ENSP00000512716.1:n.695dup
ENST00000696559.1:c.626dup	ENSP00000512717.1:p.Thr211AspfsTer10
ENST00000696560.1:c.626dup	ENSP00000512718.1:p.Thr211AspfsTer10
ENST00000696561.1:c.626dup	ENSP00000512719.1:p.Thr211AspfsTer10
ENST00000696562.1:c.626dup	ENSP00000512720.1:p.Thr211AspfsTer10
ENST00000412585.7:c.626dup MANE Select	ENSP00000399168.2:p.Thr211AspfsTer10
ENST00000412585.6:c.626dup	ENSP00000399168.2:p.Thr211AspfsTer10
ENST00000434333.1:c.659dup	ENSP00000405931.1:p.Thr222AspfsTer10
ENST00000463574.1:n.217dup
ENST00000474381.1:n.1075dup
ENST00000498007.1:n.892dup
NM_005514.6:c.626dup	NP_005505.2:p.Thr211AspfsTer10
XM_011514556.1:c.659dup	XP_011512858.1:p.Thr222AspfsTer10
XM_011514557.1:c.626dup	XP_011512859.1:p.Thr211AspfsTer10
XR_926175.1:n.1065dup
NM_005514.7:c.626dup	NP_005505.2:p.Thr211AspfsTer10
NM_005514.8:c.626dup MANE Select	NP_005505.2:p.Thr211AspfsTer10