Canonical Allele Identifier: CA2677949788
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31269501-TGA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269505_31269506del , CM000668.2:g.31269505_31269506del GRCh38
NC_000006.11:g.31237282_31237283del , CM000668.1:g.31237282_31237283del GRCh37
NC_000006.10:g.31345261_31345262del NCBI36
NG_029422.2:g.7629_7630del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1038_1039del MANE Select ENSP00000365402.5:p.Gln347GlyfsTer11
ENST00000376228.9:c.1038_1039del ENSP00000365402.5:p.Gln347GlyfsTer11
ENST00000376237.8:c.*625_*626del ENSP00000365412.4:n.*625_*626del
ENST00000383329.7:c.1056_1057del ENSP00000372819.3:p.Gln353GlyfsTer11
ENST00000466892.5:n.164_165del
ENST00000470363.5:n.796_797del
ENST00000487245.5:n.1397_1398del
NM_002117.5:c.1038_1039del NP_002108.4:p.Gln347GlyfsTer11
NM_002117.6:c.1038_1039del MANE Select NP_002108.4:p.Gln347GlyfsTer11
Search 100 bp 5'
Search 100 bp 3'