Canonical Allele Identifier: CA2677950716
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270452-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270457del , CM000668.2:g.31270457del GRCh38
NC_000006.11:g.31238234del , CM000668.1:g.31238234del GRCh37
NC_000006.10:g.31346213del NCBI36
NG_029422.2:g.6679del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.652del MANE Select ENSP00000365402.5:p.Leu218SerfsTer8
ENST00000376228.9:c.652del ENSP00000365402.5:p.Leu218SerfsTer8
ENST00000376237.8:c.*239del ENSP00000365412.4:n.*239del
ENST00000383329.7:c.652del ENSP00000372819.3:p.Leu218SerfsTer8
ENST00000415537.1:c.650del
ENST00000487245.5:n.1011del
ENST00000495835.1:n.841del
NM_002117.5:c.652del NP_002108.4:p.Leu218SerfsTer8
NM_002117.6:c.652del MANE Select NP_002108.4:p.Leu218SerfsTer8
Search 100 bp 5'
Search 100 bp 3'