Canonical Allele Identifier: CA915941844

Gene: VHL

Linked Data

• ClinVar Variation Id: 824019
• ClinVar RCV Id: RCV001020780 ; RCV001216349
• dbSNP Id: rs1575927767

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146536dup , CM000665.2:g.10146536dup	GRCh38
NC_000003.11:g.10188220dup , CM000665.1:g.10188220dup	GRCh37
NC_000003.10:g.10163220dup	NCBI36
NG_008212.3:g.9902dup , LRG_322:g.9902dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*40dup	ENSP00000512434.1:n.*40dup
ENST00000696143.1:c.600-3251dup	ENSP00000512435.1:n.600-3251dup
ENST00000696153.1:c.363dup	ENSP00000512444.1:p.Ala122CysfsTer10
ENST00000256474.3:c.363dup MANE Select	ENSP00000256474.3:p.Ala122CysfsTer10
ENST00000256474.2:c.363dup	ENSP00000256474.2:p.Ala122CysfsTer10
ENST00000345392.2:c.341-3251dup	ENSP00000344757.2:n.341-3251dup
ENST00000477538.1:n.499dup
NM_000551.3:c.363dup , LRG_322t1:c.363dup	NP_000542.1:p.Ala122CysfsTer10
NM_198156.2:c.341-3251dup	NP_937799.1:n.341-3251dup
XM_011534078.1:c.*40dup	XP_011532380.1:n.*40dup
NM_001354723.1:c.*18-3251dup	NP_001341652.1:n.*18-3251dup
NM_000551.4:c.363dup MANE Select	NP_000542.1:p.Ala122CysfsTer10
NM_001354723.2:c.*18-3251dup	NP_001341652.1:n.*18-3251dup
NM_198156.3:c.341-3251dup	NP_937799.1:n.341-3251dup