Canonical Allele Identifier: CA2677950311
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31270037-A-AGCCAGGACAGCTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270038_31270039insCCAGGACAGCTGG , CM000668.2:g.31270038_31270039insCCAGGACAGCTGG GRCh38
NC_000006.11:g.31237815_31237816insCCAGGACAGCTGG , CM000668.1:g.31237815_31237816insCCAGGACAGCTGG GRCh37
NC_000006.10:g.31345794_31345795insCCAGGACAGCTGG NCBI36
NG_029422.2:g.7094_7095insCAGCTGTCCTGGC

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.943_944insCAGCTGTCCTGGC MANE Select ENSP00000365402.5:p.Leu315ProfsTer24
ENST00000376228.9:c.943_944insCAGCTGTCCTGGC ENSP00000365402.5:p.Leu315ProfsTer24
ENST00000376237.8:c.*530_*531insCAGCTGTCCTGGC ENSP00000365412.4:n.*530_*531insCAGCTGTCC...
ENST00000383329.7:c.943_944insCAGCTGTCCTGGC ENSP00000372819.3:p.Leu315ProfsTer24
ENST00000470363.5:n.261_262insCAGCTGTCCTGGC
ENST00000487245.5:n.1302_1303insCAGCTGTCCTGGC
NM_002117.5:c.943_944insCAGCTGTCCTGGC NP_002108.4:p.Leu315ProfsTer24
NM_002117.6:c.943_944insCAGCTGTCCTGGC MANE Select NP_002108.4:p.Leu315ProfsTer24
Search 100 bp 5'
Search 100 bp 3'