Canonical Allele Identifier: CA3710882

Gene: HLA-C

Linked Data

• dbSNP Id: rs753820145
• ExAC: 6:31239450 TTC / T
• gnomAD v2: 6-31239450-TTC-T
• MyVariant Identifiers: chr6:g.31239451_31239452del (hg19) ; chr6:g.31271674_31271675del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271675_31271676del , CM000668.2:g.31271675_31271676del	GRCh38
NC_000006.11:g.31239452_31239453del , CM000668.1:g.31239452_31239453del	GRCh37
NC_000006.10:g.31347431_31347432del	NCBI36
NG_029422.2:g.5457_5458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.267_268del MANE Select	ENSP00000365402.5:p.Lys90ValfsTer8
ENST00000376228.9:c.267_268del	ENSP00000365402.5:p.Lys90ValfsTer8
ENST00000376237.8:c.267_268del	ENSP00000365412.4:p.Lys90ValfsTer8
ENST00000383329.7:c.267_268del	ENSP00000372819.3:p.Lys90ValfsTer8
ENST00000415537.1:c.265_266del
ENST00000484378.1:n.286_287del
ENST00000487245.5:n.376_377del
ENST00000495835.1:n.456_457del
NM_002117.5:c.267_268del	NP_002108.4:p.Lys90ValfsTer8
NM_002117.6:c.267_268del MANE Select	NP_002108.4:p.Lys90ValfsTer8