Canonical Allele Identifier: CA1345062013

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149678_10149679delinsCT , CM000665.2:g.10149678_10149679delinsCT	GRCh38
NC_000003.11:g.10191362_10191363delinsCT , CM000665.1:g.10191362_10191363delinsCT	GRCh37
NC_000003.10:g.10166362_10166363delinsCT	NCBI36
NG_008212.3:g.13044_13045delinsCT , LRG_322:g.13044_13045delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-109_*141-108delinsCT	ENSP00000512434.1:n.*141-109_*141-108delinsCT
ENST00000696143.1:c.600-109_600-108delinsCT	ENSP00000512435.1:n.600-109_600-108delinsCT
ENST00000696153.1:c.575-109_575-108delinsCT	ENSP00000512444.1:n.575-109_575-108delinsCT
ENST00000256474.3:c.464-109_464-108delinsCT MANE Select	ENSP00000256474.3:n.464-109_464-108delinsCT
ENST00000256474.2:c.464-109_464-108delinsCT	ENSP00000256474.2:n.464-109_464-108delinsCT
ENST00000345392.2:c.341-109_341-108delinsCT	ENSP00000344757.2:n.341-109_341-108delinsCT
ENST00000477538.1:n.600-109_600-108delinsCT
NM_000551.3:c.464-109_464-108delinsCT , LRG_322t1:c.464-109_464-108delinsCT	NP_000542.1:n.464-109_464-108delinsCT
NM_198156.2:c.341-109_341-108delinsCT	NP_937799.1:n.341-109_341-108delinsCT
NM_001354723.1:c.*18-109_*18-108delinsCT	NP_001341652.1:n.*18-109_*18-108delinsCT
NM_000551.4:c.464-109_464-108delinsCT MANE Select	NP_000542.1:n.464-109_464-108delinsCT
NM_001354723.2:c.*18-109_*18-108delinsCT	NP_001341652.1:n.*18-109_*18-108delinsCT
NM_198156.3:c.341-109_341-108delinsCT	NP_937799.1:n.341-109_341-108delinsCT