Canonical Allele Identifier: CA3710794

Gene: HLA-C

Linked Data

• dbSNP Id: rs778339286
• ExAC: 6:31239113 AGG / A
• gnomAD v2: 6-31239113-AGG-A
• gnomAD v3: 6-31271336-AGG-A
• gnomAD v4: 6-31271336-AGG-A
• MyVariant Identifiers: chr6:g.31239114_31239115del (hg19) ; chr6:g.31239115_31239118delinsTG (hg19) ; chr6:g.31271337_31271338del (hg38) ; chr6:g.31271338_31271341delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271338_31271339del , CM000668.2:g.31271338_31271339del	GRCh38
NC_000006.11:g.31239115_31239116del , CM000668.1:g.31239115_31239116del	GRCh37
NC_000006.10:g.31347094_31347095del	NCBI36
NG_029422.2:g.5794_5795del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.354_355del MANE Select	ENSP00000365402.5:p.Leu119ProfsTer19
ENST00000376228.9:c.354_355del	ENSP00000365402.5:p.Leu119ProfsTer19
ENST00000376237.8:c.344-7_344-6del	ENSP00000365412.4:n.344-7_344-6del
ENST00000383329.7:c.354_355del	ENSP00000372819.3:p.Leu119ProfsTer19
ENST00000415537.1:c.352_353del
ENST00000484378.1:n.623_624del
ENST00000487245.5:n.713_714del
ENST00000495835.1:n.543_544del
NM_002117.5:c.354_355del	NP_002108.4:p.Leu119ProfsTer19
NM_002117.6:c.354_355del MANE Select	NP_002108.4:p.Leu119ProfsTer19