Canonical Allele Identifier: CA2677951300
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31271200-A-AGCCGCCATGTCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271205_31271206insCATGTCCGCCGC , CM000668.2:g.31271205_31271206insCATGTCCGCCGC GRCh38
NC_000006.11:g.31238982_31238983insCATGTCCGCCGC , CM000668.1:g.31238982_31238983insCATGTCCGCCGC GRCh37
NC_000006.10:g.31346961_31346962insCATGTCCGCCGC NCBI36
NG_029422.2:g.5931_5932insGGACATGGCGGC

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.491_492insGGACATGGCGGC MANE Select ENSP00000365402.5:p.Ala164_Gln165insAspMetAlaAla
ENST00000376228.9:c.491_492insGGACATGGCGGC ENSP00000365402.5:p.Ala164_Gln165insAspMetAlaAla
ENST00000376237.8:c.*78_*79insGGACATGGCGGC ENSP00000365412.4:n.*78_*79insGGACATGGCGGC
ENST00000383329.7:c.491_492insGGACATGGCGGC ENSP00000372819.3:p.Ala164_Gln165insAspMetAlaAla
ENST00000415537.1:c.489_490insGGACATGGCGGC
ENST00000484378.1:n.760_761insGGACATGGCGGC
ENST00000487245.5:n.850_851insGGACATGGCGGC
ENST00000495835.1:n.680_681insGGACATGGCGGC
NM_002117.5:c.491_492insGGACATGGCGGC NP_002108.4:p.Ala164_Gln165insAspMetAlaAla
NM_002117.6:c.491_492insGGACATGGCGGC MANE Select NP_002108.4:p.Ala164_Gln165insAspMetAlaAla
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