Canonical Allele Identifier: CA566688984

Gene: HLA-C

Linked Data

• dbSNP Id: rs1562025752
• gnomAD v2: 6-31238968-GGTGAT-G
• MyVariant Identifiers: chr6:g.31238969_31238973del (hg19) ; chr6:g.31271192_31271196del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271192_31271196del , CM000668.2:g.31271192_31271196del	GRCh38
NC_000006.11:g.31238969_31238973del , CM000668.1:g.31238969_31238973del	GRCh37
NC_000006.10:g.31346948_31346952del	NCBI36
NG_029422.2:g.5936_5940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.496_500del MANE Select	ENSP00000365402.5:p.Ile166ProfsTer?
ENST00000376228.9:c.496_500del	ENSP00000365402.5:p.Ile166ProfsTer?
ENST00000376237.8:c.*83_*87del	ENSP00000365412.4:n.*83_*87del
ENST00000383329.7:c.496_500del	ENSP00000372819.3:p.Ile166ProfsTer?
ENST00000415537.1:c.494_498del
ENST00000484378.1:n.765_769del
ENST00000487245.5:n.855_859del
ENST00000495835.1:n.685_689del
NM_002117.5:c.496_500del	NP_002108.4:p.Ile166ProfsTer?
NM_002117.6:c.496_500del MANE Select	NP_002108.4:p.Ile166ProfsTer?