Canonical Allele Identifier: CA896162729

Gene: VHL

Linked Data

• dbSNP Id: rs1352319735
• MyVariant Identifiers: chr3:g.10188135_10188160del (hg19) ; chr3:g.10146451_10146476del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146458_10146483del , CM000665.2:g.10146458_10146483del	GRCh38
NC_000003.11:g.10188142_10188167del , CM000665.1:g.10188142_10188167del	GRCh37
NC_000003.10:g.10163142_10163167del	NCBI36
NG_008212.3:g.9824_9849del , LRG_322:g.9824_9849del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-56_*18-31del	ENSP00000512434.1:n.*18-56_*18-31del
ENST00000696143.1:c.600-3329_600-3304del	ENSP00000512435.1:n.600-3329_600-3304del
ENST00000696153.1:c.341-56_341-31del	ENSP00000512444.1:n.341-56_341-31del
ENST00000256474.3:c.341-56_341-31del MANE Select	ENSP00000256474.3:n.341-56_341-31del
ENST00000256474.2:c.341-56_341-31del	ENSP00000256474.2:n.341-56_341-31del
ENST00000345392.2:c.341-3329_341-3304del	ENSP00000344757.2:n.341-3329_341-3304del
ENST00000477538.1:n.477-56_477-31del
NM_000551.3:c.341-56_341-31del , LRG_322t1:c.341-56_341-31del	NP_000542.1:n.341-56_341-31del
NM_198156.2:c.341-3329_341-3304del	NP_937799.1:n.341-3329_341-3304del
XM_011534078.1:c.*18-56_*18-31del	XP_011532380.1:n.*18-56_*18-31del
NM_001354723.1:c.*18-3329_*18-3304del	NP_001341652.1:n.*18-3329_*18-3304del
NM_000551.4:c.341-56_341-31del MANE Select	NP_000542.1:n.341-56_341-31del
NM_001354723.2:c.*18-3329_*18-3304del	NP_001341652.1:n.*18-3329_*18-3304del
NM_198156.3:c.341-3329_341-3304del	NP_937799.1:n.341-3329_341-3304del