Canonical Allele Identifier: CA2677950713
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270447-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270452_31270453del , CM000668.2:g.31270452_31270453del GRCh38
NC_000006.11:g.31238229_31238230del , CM000668.1:g.31238229_31238230del GRCh37
NC_000006.10:g.31346208_31346209del NCBI36
NG_029422.2:g.6683_6684del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.656_657del MANE Select ENSP00000365402.5:p.Ser219Ter
ENST00000376228.9:c.656_657del ENSP00000365402.5:p.Ser219Ter
ENST00000376237.8:c.*243_*244del ENSP00000365412.4:n.*243_*244del
ENST00000383329.7:c.656_657del ENSP00000372819.3:p.Ser219Ter
ENST00000415537.1:c.654_655del
ENST00000487245.5:n.1015_1016del
ENST00000495835.1:n.845_846del
NM_002117.5:c.656_657del NP_002108.4:p.Ser219Ter
NM_002117.6:c.656_657del MANE Select NP_002108.4:p.Ser219Ter
Search 100 bp 5'
Search 100 bp 3'