Canonical Allele Identifier: CA1345067161

Gene: VHL

Linked Data

• dbSNP Id: rs1696158429

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142784_10142787dup , CM000665.2:g.10142784_10142787dup	GRCh38
NC_000003.11:g.10184468_10184471dup , CM000665.1:g.10184468_10184471dup	GRCh37
NC_000003.10:g.10159468_10159471dup	NCBI36
NG_008212.3:g.6150_6153dup , LRG_322:g.6150_6153dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.362_365dup	ENSP00000512434.1:p.Phe122LeufsTer?
ENST00000696143.1:c.362_365dup	ENSP00000512435.1:p.Phe122LeufsTer?
ENST00000696153.1:c.340+597_340+600dup	ENSP00000512444.1:n.340+597_340+600dup
ENST00000256474.3:c.340+597_340+600dup MANE Select	ENSP00000256474.3:n.340+597_340+600dup
ENST00000256474.2:c.340+597_340+600dup	ENSP00000256474.2:n.340+597_340+600dup
ENST00000345392.2:c.340+597_340+600dup	ENSP00000344757.2:n.340+597_340+600dup
ENST00000477538.1:n.239_242dup
NM_000551.3:c.340+597_340+600dup , LRG_322t1:c.340+597_340+600dup	NP_000542.1:n.340+597_340+600dup
NM_198156.2:c.340+597_340+600dup	NP_937799.1:n.340+597_340+600dup
XM_011534078.1:c.362_365dup	XP_011532380.1:p.Phe122LeufsTer?
NM_001354723.1:c.362_365dup	NP_001341652.1:p.Phe122LeufsTer?
NM_000551.4:c.340+597_340+600dup MANE Select	NP_000542.1:n.340+597_340+600dup
NM_001354723.2:c.362_365dup	NP_001341652.1:p.Phe122LeufsTer?
NM_198156.3:c.340+597_340+600dup	NP_937799.1:n.340+597_340+600dup