Canonical Allele Identifier: CA1345068571

Gene: VHL

Linked Data

• dbSNP Id: rs1696200837

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144320_10144329del , CM000665.2:g.10144320_10144329del	GRCh38
NC_000003.11:g.10186004_10186013del , CM000665.1:g.10186004_10186013del	GRCh37
NC_000003.10:g.10161004_10161013del	NCBI36
NG_008212.3:g.7686_7695del , LRG_322:g.7686_7695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1299_*17+1308del	ENSP00000512434.1:n.*17+1299_*17+1308del
ENST00000696143.1:c.599+1299_599+1308del	ENSP00000512435.1:n.599+1299_599+1308del
ENST00000696153.1:c.340+2133_340+2142del	ENSP00000512444.1:n.340+2133_340+2142del
ENST00000256474.3:c.340+2133_340+2142del MANE Select	ENSP00000256474.3:n.340+2133_340+2142del
ENST00000256474.2:c.340+2133_340+2142del	ENSP00000256474.2:n.340+2133_340+2142del
ENST00000345392.2:c.340+2133_340+2142del	ENSP00000344757.2:n.340+2133_340+2142del
ENST00000477538.1:n.476+1299_476+1308del
NM_000551.3:c.340+2133_340+2142del , LRG_322t1:c.340+2133_340+2142del	NP_000542.1:n.340+2133_340+2142del
NM_198156.2:c.340+2133_340+2142del	NP_937799.1:n.340+2133_340+2142del
XM_011534078.1:c.*17+1299_*17+1308del	XP_011532380.1:n.*17+1299_*17+1308del
NM_001354723.1:c.*17+1299_*17+1308del	NP_001341652.1:n.*17+1299_*17+1308del
NM_000551.4:c.340+2133_340+2142del MANE Select	NP_000542.1:n.340+2133_340+2142del
NM_001354723.2:c.*17+1299_*17+1308del	NP_001341652.1:n.*17+1299_*17+1308del
NM_198156.3:c.340+2133_340+2142del	NP_937799.1:n.340+2133_340+2142del