Canonical Allele Identifier: CA916832777

Gene: VHL

Linked Data

• dbSNP Id: rs1575933016

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150172del , CM000665.2:g.10150172del	GRCh38
NC_000003.11:g.10191856del , CM000665.1:g.10191856del	GRCh37
NC_000003.10:g.10166856del	NCBI36
NG_008212.3:g.13538del , LRG_322:g.13538del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*526del	ENSP00000512434.1:n.*526del
ENST00000696143.1:c.985del	ENSP00000512435.1:n.985del
ENST00000696153.1:c.*207del	ENSP00000512444.1:n.*207del
ENST00000256474.3:c.*207del MANE Select	ENSP00000256474.3:n.*207del
ENST00000256474.2:c.*207del	ENSP00000256474.2:n.*207del
ENST00000345392.2:c.*207del	ENSP00000344757.2:n.*207del
NM_000551.3:c.*207del , LRG_322t1:c.*207del	NP_000542.1:n.*207del
NM_198156.2:c.*207del	NP_937799.1:n.*207del
NM_001354723.1:c.*403del	NP_001341652.1:n.*403del
NM_000551.4:c.*207del MANE Select	NP_000542.1:n.*207del
NM_001354723.2:c.*403del	NP_001341652.1:n.*403del
NM_198156.3:c.*207del	NP_937799.1:n.*207del