Canonical Allele Identifier: CA1345069708

Gene: VHL

Linked Data

• dbSNP Id: rs1696259567

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146488_10146489del , CM000665.2:g.10146488_10146489del	GRCh38
NC_000003.11:g.10188172_10188173del , CM000665.1:g.10188172_10188173del	GRCh37
NC_000003.10:g.10163172_10163173del	NCBI36
NG_008212.3:g.9854_9855del , LRG_322:g.9854_9855del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-26_*18-25del	ENSP00000512434.1:n.*18-26_*18-25del
ENST00000696143.1:c.600-3299_600-3298del	ENSP00000512435.1:n.600-3299_600-3298del
ENST00000696153.1:c.341-26_341-25del	ENSP00000512444.1:n.341-26_341-25del
ENST00000256474.3:c.341-26_341-25del MANE Select	ENSP00000256474.3:n.341-26_341-25del
ENST00000256474.2:c.341-26_341-25del	ENSP00000256474.2:n.341-26_341-25del
ENST00000345392.2:c.341-3299_341-3298del	ENSP00000344757.2:n.341-3299_341-3298del
ENST00000477538.1:n.477-26_477-25del
NM_000551.3:c.341-26_341-25del , LRG_322t1:c.341-26_341-25del	NP_000542.1:n.341-26_341-25del
NM_198156.2:c.341-3299_341-3298del	NP_937799.1:n.341-3299_341-3298del
XM_011534078.1:c.*18-26_*18-25del	XP_011532380.1:n.*18-26_*18-25del
NM_001354723.1:c.*18-3299_*18-3298del	NP_001341652.1:n.*18-3299_*18-3298del
NM_000551.4:c.341-26_341-25del MANE Select	NP_000542.1:n.341-26_341-25del
NM_001354723.2:c.*18-3299_*18-3298del	NP_001341652.1:n.*18-3299_*18-3298del
NM_198156.3:c.341-3299_341-3298del	NP_937799.1:n.341-3299_341-3298del