Canonical Allele Identifier: CA2677950287
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269988-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269989dup , CM000668.2:g.31269989dup GRCh38
NC_000006.11:g.31237766dup , CM000668.1:g.31237766dup GRCh37
NC_000006.10:g.31345745dup NCBI36
NG_029422.2:g.7143dup

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.992dup MANE Select ENSP00000365402.5:p.Met331IlefsTer4
ENST00000376228.9:c.992dup ENSP00000365402.5:p.Met331IlefsTer4
ENST00000376237.8:c.*579dup ENSP00000365412.4:n.*579dup
ENST00000383329.7:c.992dup ENSP00000372819.3:p.Met331IlefsTer4
ENST00000470363.5:n.310dup
ENST00000487245.5:n.1351dup
NM_002117.5:c.992dup NP_002108.4:p.Met331IlefsTer4
NM_002117.6:c.992dup MANE Select NP_002108.4:p.Met331IlefsTer4
Search 100 bp 5'
Search 100 bp 3'