Canonical Allele Identifier: CA3711532

Gene: HLA-B

Linked Data

• ClinVar Variation Id: 3059333
• ClinVar RCV Id: RCV003974304
• dbSNP Id: rs766450595
• ExAC: 6:31324022 TCC / T
• gnomAD v2: 6-31324022-TCC-T
• gnomAD v3: 6-31356245-TCC-T
• gnomAD v4: 6-31356245-TCC-T
• MyVariant Identifiers: chr6:g.31324023_31324024del (hg19) ; chr6:g.31324023_31324025delinsG (hg19) ; chr6:g.31356246_31356247del (hg38) ; chr6:g.31356246_31356248delinsG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31356246_31356247del , CM000668.2:g.31356246_31356247del	GRCh38
NC_000006.11:g.31324023_31324024del , CM000668.1:g.31324023_31324024del	GRCh37
NC_000006.10:g.31432002_31432003del	NCBI36
NG_023187.1:g.5966_5967del

Transcript Alleles

HGVS	Amino-acid change
ENST00000474381.2:n.2012_2013del
ENST00000481849.6:n.2012_2013del
ENST00000497377.6:n.2012_2013del
ENST00000640094.2:c.539_540del	ENSP00000491275.2:p.Arg180GlnfsTer27
ENST00000696558.1:c.539_540del	ENSP00000512716.1:p.Arg180GlnfsTer27
ENST00000696559.1:c.539_540del	ENSP00000512717.1:p.Arg180GlnfsTer27
ENST00000696560.1:c.539_540del	ENSP00000512718.1:p.Arg180GlnfsTer27
ENST00000696561.1:c.539_540del	ENSP00000512719.1:p.Arg180GlnfsTer27
ENST00000696562.1:c.539_540del	ENSP00000512720.1:p.Arg180GlnfsTer27
ENST00000412585.7:c.539_540del MANE Select	ENSP00000399168.2:p.Arg180GlnfsTer27
ENST00000412585.6:c.539_540del	ENSP00000399168.2:p.Arg180GlnfsTer27
ENST00000434333.1:c.572_573del	ENSP00000405931.1:p.Arg191GlnfsTer27
ENST00000474381.1:n.414_415del
ENST00000498007.1:n.805_806del
NM_005514.6:c.539_540del	NP_005505.2:p.Arg180GlnfsTer27
XM_011514556.1:c.572_573del	XP_011512858.1:p.Arg191GlnfsTer27
XM_011514557.1:c.539_540del	XP_011512859.1:p.Arg180GlnfsTer27
XR_926175.1:n.549_550del
NM_005514.7:c.539_540del	NP_005505.2:p.Arg180GlnfsTer27
NM_005514.8:c.539_540del MANE Select	NP_005505.2:p.Arg180GlnfsTer27