Canonical Allele Identifier: CA136868436

Gene: HLA-C

Linked Data

• dbSNP Id: rs202049340
• gnomAD v4: 6-31271556-TGGG-T
• MyVariant Identifiers: chr6:g.31239334_31239336del (hg19) ; chr6:g.31271557_31271559del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271558_31271560del , CM000668.2:g.31271558_31271560del	GRCh38
NC_000006.11:g.31239335_31239337del , CM000668.1:g.31239335_31239337del	GRCh37
NC_000006.10:g.31347314_31347316del	NCBI36
NG_029422.2:g.5573_5575del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.343+40_343+42del MANE Select	ENSP00000365402.5:n.343+40_343+42del
ENST00000376228.9:c.343+40_343+42del	ENSP00000365402.5:n.343+40_343+42del
ENST00000376237.8:c.343+40_343+42del	ENSP00000365412.4:n.343+40_343+42del
ENST00000383329.7:c.343+40_343+42del	ENSP00000372819.3:n.343+40_343+42del
ENST00000415537.1:c.341+40_341+42del
ENST00000484378.1:n.402_404del
ENST00000487245.5:n.492_494del
ENST00000495835.1:n.532+40_532+42del
NM_002117.5:c.343+40_343+42del	NP_002108.4:n.343+40_343+42del
NM_002117.6:c.343+40_343+42del MANE Select	NP_002108.4:n.343+40_343+42del