Canonical Allele Identifier: CA1087449947
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs2113901812
gnomAD v3: 6-31269346-G-GC
gnomAD v4: 6-31269346-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269346_31269347insC , CM000668.2:g.31269346_31269347insC GRCh38
NC_000006.11:g.31237123_31237124insC , CM000668.1:g.31237123_31237124insC GRCh37
NC_000006.10:g.31345102_31345103insC NCBI36
NG_029422.2:g.7785_7786insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1087_1088insG MANE Select ENSP00000365402.5:p.Thr363SerfsTer3
ENST00000376228.9:c.1087_1088insG ENSP00000365402.5:p.Thr363SerfsTer3
ENST00000376237.8:c.*674_*675insG ENSP00000365412.4:n.*674_*675insG
ENST00000383329.7:c.1105_1106insG ENSP00000372819.3:p.Thr369SerfsTer3
ENST00000466892.5:n.320_321insG
ENST00000470363.5:n.845_846insG
ENST00000487245.5:n.1446_1447insG
NM_002117.5:c.1087_1088insG NP_002108.4:p.Thr363SerfsTer3
NM_002117.6:c.1087_1088insG MANE Select NP_002108.4:p.Thr363SerfsTer3
Search 100 bp 5'
Search 100 bp 3'