Canonical Allele Identifier: CA2573131861

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146533_10146535del , CM000665.2:g.10146533_10146535del	GRCh38
NC_000003.11:g.10188217_10188219del , CM000665.1:g.10188217_10188219del	GRCh37
NC_000003.10:g.10163217_10163219del	NCBI36
NG_008212.3:g.9899_9901del , LRG_322:g.9899_9901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*37_*39del	ENSP00000512434.1:n.*37_*39del
ENST00000696143.1:c.600-3254_600-3252del	ENSP00000512435.1:n.600-3254_600-3252del
ENST00000696153.1:c.360_362del	ENSP00000512444.1:p.Arg120_Asp121delinsSer
ENST00000256474.3:c.360_362del MANE Select	ENSP00000256474.3:p.Arg120_Asp121delinsSer
ENST00000256474.2:c.360_362del	ENSP00000256474.2:p.Arg120_Asp121delinsSer
ENST00000345392.2:c.341-3254_341-3252del	ENSP00000344757.2:n.341-3254_341-3252del
ENST00000477538.1:n.496_498del
NM_000551.3:c.360_362del , LRG_322t1:c.360_362del	NP_000542.1:p.Arg120_Asp121delinsSer
NM_198156.2:c.341-3254_341-3252del	NP_937799.1:n.341-3254_341-3252del
XM_011534078.1:c.*37_*39del	XP_011532380.1:n.*37_*39del
NM_001354723.1:c.*18-3254_*18-3252del	NP_001341652.1:n.*18-3254_*18-3252del
NM_000551.4:c.360_362del MANE Select	NP_000542.1:p.Arg120_Asp121delinsSer
NM_001354723.2:c.*18-3254_*18-3252del	NP_001341652.1:n.*18-3254_*18-3252del
NM_198156.3:c.341-3254_341-3252del	NP_937799.1:n.341-3254_341-3252del