Canonical Allele Identifier: CA1345062004

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149663_10149664delinsCT , CM000665.2:g.10149663_10149664delinsCT	GRCh38
NC_000003.11:g.10191347_10191348delinsCT , CM000665.1:g.10191347_10191348delinsCT	GRCh37
NC_000003.10:g.10166347_10166348delinsCT	NCBI36
NG_008212.3:g.13029_13030delinsCT , LRG_322:g.13029_13030delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*141-124_*141-123delinsCT	ENSP00000512434.1:n.*141-124_*141-123delinsCT
ENST00000696143.1:c.600-124_600-123delinsCT	ENSP00000512435.1:n.600-124_600-123delinsCT
ENST00000696153.1:c.575-124_575-123delinsCT	ENSP00000512444.1:n.575-124_575-123delinsCT
ENST00000256474.3:c.464-124_464-123delinsCT MANE Select	ENSP00000256474.3:n.464-124_464-123delinsCT
ENST00000256474.2:c.464-124_464-123delinsCT	ENSP00000256474.2:n.464-124_464-123delinsCT
ENST00000345392.2:c.341-124_341-123delinsCT	ENSP00000344757.2:n.341-124_341-123delinsCT
ENST00000477538.1:n.600-124_600-123delinsCT
NM_000551.3:c.464-124_464-123delinsCT , LRG_322t1:c.464-124_464-123delinsCT	NP_000542.1:n.464-124_464-123delinsCT
NM_198156.2:c.341-124_341-123delinsCT	NP_937799.1:n.341-124_341-123delinsCT
NM_001354723.1:c.*18-124_*18-123delinsCT	NP_001341652.1:n.*18-124_*18-123delinsCT
NM_000551.4:c.464-124_464-123delinsCT MANE Select	NP_000542.1:n.464-124_464-123delinsCT
NM_001354723.2:c.*18-124_*18-123delinsCT	NP_001341652.1:n.*18-124_*18-123delinsCT
NM_198156.3:c.341-124_341-123delinsCT	NP_937799.1:n.341-124_341-123delinsCT