Canonical Allele Identifier: CA2580068425

Gene: VHL

Linked Data

• ClinVar Variation Id: 2032633
• ClinVar RCV Id: RCV002885000

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142828_10142829insCTCC , CM000665.2:g.10142828_10142829insCTCC	GRCh38
NC_000003.11:g.10184512_10184513insCTCC , CM000665.1:g.10184512_10184513insCTCC	GRCh37
NC_000003.10:g.10159512_10159513insCTCC	NCBI36
NG_008212.3:g.6194_6195insCTCC , LRG_322:g.6194_6195insCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.406_407insCTCC	ENSP00000512434.1:p.Gly136AlafsTer?
ENST00000696143.1:c.406_407insCTCC	ENSP00000512435.1:p.Gly136AlafsTer?
ENST00000696153.1:c.340+641_340+642insCTCC	ENSP00000512444.1:n.340+641_340+642insCTCC
ENST00000256474.3:c.340+641_340+642insCTCC MANE Select	ENSP00000256474.3:n.340+641_340+642insCTCC
ENST00000256474.2:c.340+641_340+642insCTCC	ENSP00000256474.2:n.340+641_340+642insCTCC
ENST00000345392.2:c.340+641_340+642insCTCC	ENSP00000344757.2:n.340+641_340+642insCTCC
ENST00000477538.1:n.283_284insCTCC
NM_000551.3:c.340+641_340+642insCTCC , LRG_322t1:c.340+641_340+642insCTCC	NP_000542.1:n.340+641_340+642insCTCC
NM_198156.2:c.340+641_340+642insCTCC	NP_937799.1:n.340+641_340+642insCTCC
XM_011534078.1:c.406_407insCTCC	XP_011532380.1:p.Gly136AlafsTer?
NM_001354723.1:c.406_407insCTCC	NP_001341652.1:p.Gly136AlafsTer?
NM_000551.4:c.340+641_340+642insCTCC MANE Select	NP_000542.1:n.340+641_340+642insCTCC
NM_001354723.2:c.406_407insCTCC	NP_001341652.1:p.Gly136AlafsTer?
NM_198156.3:c.340+641_340+642insCTCC	NP_937799.1:n.340+641_340+642insCTCC