Canonical Allele Identifier: CA2573136096

Gene: VHL

Linked Data

• ClinVar Variation Id: 1347141
• ClinVar RCV Id: RCV002050520
• dbSNP Id: rs2125125871

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142800dup , CM000665.2:g.10142800dup	GRCh38
NC_000003.11:g.10184484dup , CM000665.1:g.10184484dup	GRCh37
NC_000003.10:g.10159484dup	NCBI36
NG_008212.3:g.6166dup , LRG_322:g.6166dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.378dup	ENSP00000512434.1:p.Ala127CysfsTer?
ENST00000696143.1:c.378dup	ENSP00000512435.1:p.Ala127CysfsTer?
ENST00000696153.1:c.340+613dup	ENSP00000512444.1:n.340+613dup
ENST00000256474.3:c.340+613dup MANE Select	ENSP00000256474.3:n.340+613dup
ENST00000256474.2:c.340+613dup	ENSP00000256474.2:n.340+613dup
ENST00000345392.2:c.340+613dup	ENSP00000344757.2:n.340+613dup
ENST00000477538.1:n.255dup
NM_000551.3:c.340+613dup , LRG_322t1:c.340+613dup	NP_000542.1:n.340+613dup
NM_198156.2:c.340+613dup	NP_937799.1:n.340+613dup
XM_011534078.1:c.378dup	XP_011532380.1:p.Ala127CysfsTer?
NM_001354723.1:c.378dup	NP_001341652.1:p.Ala127CysfsTer?
NM_000551.4:c.340+613dup MANE Select	NP_000542.1:n.340+613dup
NM_001354723.2:c.378dup	NP_001341652.1:p.Ala127CysfsTer?
NM_198156.3:c.340+613dup	NP_937799.1:n.340+613dup