Canonical Allele Identifier: CA2573136109

Gene: VHL

Linked Data

• ClinVar Variation Id: 1402372
• ClinVar RCV Id: RCV001906408
• dbSNP Id: rs2125125946

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142855dup , CM000665.2:g.10142855dup	GRCh38
NC_000003.11:g.10184539dup , CM000665.1:g.10184539dup	GRCh37
NC_000003.10:g.10159539dup	NCBI36
NG_008212.3:g.6221dup , LRG_322:g.6221dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.433dup	ENSP00000512434.1:p.Thr145AsnfsTer?
ENST00000696143.1:c.433dup	ENSP00000512435.1:p.Thr145AsnfsTer?
ENST00000696153.1:c.340+668dup	ENSP00000512444.1:n.340+668dup
ENST00000256474.3:c.340+668dup MANE Select	ENSP00000256474.3:n.340+668dup
ENST00000256474.2:c.340+668dup	ENSP00000256474.2:n.340+668dup
ENST00000345392.2:c.340+668dup	ENSP00000344757.2:n.340+668dup
ENST00000477538.1:n.310dup
NM_000551.3:c.340+668dup , LRG_322t1:c.340+668dup	NP_000542.1:n.340+668dup
NM_198156.2:c.340+668dup	NP_937799.1:n.340+668dup
XM_011534078.1:c.433dup	XP_011532380.1:p.Thr145AsnfsTer?
NM_001354723.1:c.433dup	NP_001341652.1:p.Thr145AsnfsTer?
NM_000551.4:c.340+668dup MANE Select	NP_000542.1:n.340+668dup
NM_001354723.2:c.433dup	NP_001341652.1:p.Thr145AsnfsTer?
NM_198156.3:c.340+668dup	NP_937799.1:n.340+668dup