Canonical Allele Identifier: CA891843322

Gene: VHL

Linked Data

• ClinVar Variation Id: 583075
• ClinVar RCV Id: RCV000707314 ; RCV001016587
• dbSNP Id: rs1559426072

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142125_10142126delinsTT , CM000665.2:g.10142125_10142126delinsTT	GRCh38
NC_000003.11:g.10183809_10183810delinsTT , CM000665.1:g.10183809_10183810delinsTT	GRCh37
NC_000003.10:g.10158809_10158810delinsTT	NCBI36
NG_008212.3:g.5491_5492delinsTT , LRG_322:g.5491_5492delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.278_279delinsTT	ENSP00000512434.1:p.Gly93Val
ENST00000696143.1:c.278_279delinsTT	ENSP00000512435.1:p.Gly93Val
ENST00000696153.1:c.278_279delinsTT	ENSP00000512444.1:p.Gly93Val
ENST00000256474.3:c.278_279delinsTT MANE Select	ENSP00000256474.3:p.Gly93Val
ENST00000256474.2:c.278_279delinsTT	ENSP00000256474.2:p.Gly93Val
ENST00000345392.2:c.278_279delinsTT	ENSP00000344757.2:p.Gly93Val
NM_000551.3:c.278_279delinsTT , LRG_322t1:c.278_279delinsTT	NP_000542.1:p.Gly93Val
NM_198156.2:c.278_279delinsTT	NP_937799.1:p.Gly93Val
XM_011534078.1:c.278_279delinsTT	XP_011532380.1:p.Gly93Val
NM_001354723.1:c.278_279delinsTT	NP_001341652.1:p.Gly93Val
NM_000551.4:c.278_279delinsTT MANE Select	NP_000542.1:p.Gly93Val
NM_001354723.2:c.278_279delinsTT	NP_001341652.1:p.Gly93Val
NM_198156.3:c.278_279delinsTT	NP_937799.1:p.Gly93Val