Canonical Allele Identifier: CA2677950721
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270482-GGT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270483_31270484del , CM000668.2:g.31270483_31270484del GRCh38
NC_000006.11:g.31238260_31238261del , CM000668.1:g.31238260_31238261del GRCh37
NC_000006.10:g.31346239_31346240del NCBI36
NG_029422.2:g.6648_6649del

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.621_622del MANE Select ENSP00000365402.5:p.Glu207AspfsTer13
ENST00000376228.9:c.621_622del ENSP00000365402.5:p.Glu207AspfsTer13
ENST00000376237.8:c.*208_*209del ENSP00000365412.4:n.*208_*209del
ENST00000383329.7:c.621_622del ENSP00000372819.3:p.Glu207AspfsTer13
ENST00000415537.1:c.619_620del
ENST00000487245.5:n.980_981del
ENST00000495835.1:n.810_811del
NM_002117.5:c.621_622del NP_002108.4:p.Glu207AspfsTer13
NM_002117.6:c.621_622del MANE Select NP_002108.4:p.Glu207AspfsTer13
Search 100 bp 5'
Search 100 bp 3'