Canonical Allele Identifier: CA1087452537
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1761164088
gnomAD v3: 6-31269993-CGGT-C
gnomAD v4: 6-31269993-CGGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269995_31269997del , CM000668.2:g.31269995_31269997del GRCh38
NC_000006.11:g.31237772_31237774del , CM000668.1:g.31237772_31237774del GRCh37
NC_000006.10:g.31345751_31345753del NCBI36
NG_029422.2:g.7136_7138del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.985_987del MANE Select ENSP00000365402.5:p.Thr329del
ENST00000376228.9:c.985_987del ENSP00000365402.5:p.Thr329del
ENST00000376237.8:c.*572_*574del ENSP00000365412.4:n.*572_*574del
ENST00000383329.7:c.985_987del ENSP00000372819.3:p.Thr329del
ENST00000470363.5:n.303_305del
ENST00000487245.5:n.1344_1346del
NM_002117.5:c.985_987del NP_002108.4:p.Thr329del
NM_002117.6:c.985_987del MANE Select NP_002108.4:p.Thr329del
Search 100 bp 5'
Search 100 bp 3'