Canonical Allele Identifier: CA1044996236

Gene: VHL

Linked Data

• dbSNP Id: rs1696201199
• gnomAD v3: 3-10144332-TAGC-T
• gnomAD v4: 3-10144332-TAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144335_10144337del , CM000665.2:g.10144335_10144337del	GRCh38
NC_000003.11:g.10186019_10186021del , CM000665.1:g.10186019_10186021del	GRCh37
NC_000003.10:g.10161019_10161021del	NCBI36
NG_008212.3:g.7701_7703del , LRG_322:g.7701_7703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1314_*17+1316del	ENSP00000512434.1:n.*17+1314_*17+1316del
ENST00000696143.1:c.599+1314_599+1316del	ENSP00000512435.1:n.599+1314_599+1316del
ENST00000696153.1:c.340+2148_340+2150del	ENSP00000512444.1:n.340+2148_340+2150del
ENST00000256474.3:c.340+2148_340+2150del MANE Select	ENSP00000256474.3:n.340+2148_340+2150del
ENST00000256474.2:c.340+2148_340+2150del	ENSP00000256474.2:n.340+2148_340+2150del
ENST00000345392.2:c.340+2148_340+2150del	ENSP00000344757.2:n.340+2148_340+2150del
ENST00000477538.1:n.476+1314_476+1316del
NM_000551.3:c.340+2148_340+2150del , LRG_322t1:c.340+2148_340+2150del	NP_000542.1:n.340+2148_340+2150del
NM_198156.2:c.340+2148_340+2150del	NP_937799.1:n.340+2148_340+2150del
XM_011534078.1:c.*17+1314_*17+1316del	XP_011532380.1:n.*17+1314_*17+1316del
NM_001354723.1:c.*17+1314_*17+1316del	NP_001341652.1:n.*17+1314_*17+1316del
NM_000551.4:c.340+2148_340+2150del MANE Select	NP_000542.1:n.340+2148_340+2150del
NM_001354723.2:c.*17+1314_*17+1316del	NP_001341652.1:n.*17+1314_*17+1316del
NM_198156.3:c.340+2148_340+2150del	NP_937799.1:n.340+2148_340+2150del