Canonical Allele Identifier: CA2573136119

Gene: VHL

Linked Data

• ClinVar Variation Id: 1408508
• ClinVar RCV Id: RCV001938063
• dbSNP Id: rs2125125995

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142887_10142888insCTTCC , CM000665.2:g.10142887_10142888insCTTCC	GRCh38
NC_000003.11:g.10184571_10184572insCTTCC , CM000665.1:g.10184571_10184572insCTTCC	GRCh37
NC_000003.10:g.10159571_10159572insCTTCC	NCBI36
NG_008212.3:g.6253_6254insCTTCC , LRG_322:g.6253_6254insCTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.465_466insCTTCC	ENSP00000512434.1:p.Asp156LeufsTer10
ENST00000696143.1:c.465_466insCTTCC	ENSP00000512435.1:p.Asp156LeufsTer10
ENST00000696153.1:c.340+700_340+701insCTTCC	ENSP00000512444.1:n.340+700_340+701insCTTCC
ENST00000256474.3:c.340+700_340+701insCTTCC MANE Select	ENSP00000256474.3:n.340+700_340+701insCTTCC
ENST00000256474.2:c.340+700_340+701insCTTCC	ENSP00000256474.2:n.340+700_340+701insCTTCC
ENST00000345392.2:c.340+700_340+701insCTTCC	ENSP00000344757.2:n.340+700_340+701insCTTCC
ENST00000477538.1:n.342_343insCTTCC
NM_000551.3:c.340+700_340+701insCTTCC , LRG_322t1:c.340+700_340+701insCTTCC	NP_000542.1:n.340+700_340+701insCTTCC
NM_198156.2:c.340+700_340+701insCTTCC	NP_937799.1:n.340+700_340+701insCTTCC
XM_011534078.1:c.465_466insCTTCC	XP_011532380.1:p.Asp156LeufsTer10
NM_001354723.1:c.465_466insCTTCC	NP_001341652.1:p.Asp156LeufsTer10
NM_000551.4:c.340+700_340+701insCTTCC MANE Select	NP_000542.1:n.340+700_340+701insCTTCC
NM_001354723.2:c.465_466insCTTCC	NP_001341652.1:p.Asp156LeufsTer10
NM_198156.3:c.340+700_340+701insCTTCC	NP_937799.1:n.340+700_340+701insCTTCC