Canonical Allele Identifier: CA2677950308
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270018-T-TAGGAAAGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270022_31270023insAAGCCAGGA , CM000668.2:g.31270022_31270023insAAGCCAGGA GRCh38
NC_000006.11:g.31237799_31237800insAAGCCAGGA , CM000668.1:g.31237799_31237800insAAGCCAGGA GRCh37
NC_000006.10:g.31345778_31345779insAAGCCAGGA NCBI36
NG_029422.2:g.7113_7114insGGCTTTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.962_963insGGCTTTCCT MANE Select ENSP00000365402.5:p.Leu321_Ala322insAlaPheLeu
ENST00000376228.9:c.962_963insGGCTTTCCT ENSP00000365402.5:p.Leu321_Ala322insAlaPheLeu
ENST00000376237.8:c.*549_*550insGGCTTTCCT ENSP00000365412.4:n.*549_*550insGGCTTTCCT
ENST00000383329.7:c.962_963insGGCTTTCCT ENSP00000372819.3:p.Leu321_Ala322insAlaPheLeu
ENST00000470363.5:n.280_281insGGCTTTCCT
ENST00000487245.5:n.1321_1322insGGCTTTCCT
NM_002117.5:c.962_963insGGCTTTCCT NP_002108.4:p.Leu321_Ala322insAlaPheLeu
NM_002117.6:c.962_963insGGCTTTCCT MANE Select NP_002108.4:p.Leu321_Ala322insAlaPheLeu
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