Canonical Allele Identifier: CA1087423329
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270412-GC-G
gnomAD v4: 6-31270412-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270415del , CM000668.2:g.31270415del GRCh38
NC_000006.11:g.31238192del , CM000668.1:g.31238192del GRCh37
NC_000006.10:g.31346171del NCBI36
NG_029422.2:g.6719del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.692del MANE Select ENSP00000365402.5:p.Gly231AlafsTer9
ENST00000376228.9:c.692del ENSP00000365402.5:p.Gly231AlafsTer9
ENST00000376237.8:c.*279del ENSP00000365412.4:n.*279del
ENST00000383329.7:c.692del ENSP00000372819.3:p.Gly231AlafsTer9
ENST00000415537.1:c.664+26del
ENST00000470363.5:n.10del
ENST00000487245.5:n.1051del
ENST00000495835.1:n.881del
NM_002117.5:c.692del NP_002108.4:p.Gly231AlafsTer9
NM_002117.6:c.692del MANE Select NP_002108.4:p.Gly231AlafsTer9
Search 100 bp 5'
Search 100 bp 3'