Canonical Allele Identifier: CA2573136082

Gene: VHL

Linked Data

• ClinVar Variation Id: 1692517
• ClinVar RCV Id: RCV002255926
• dbSNP Id: rs2125124781

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141981_10141982insAGTTCCTCCGGGCCGGACTCTTCCGGGCC , CM000665.2:g.10141981_10141982insAGTTCCTCCGGGCCGGACTCTTCCGGGCC	GRCh38
NC_000003.11:g.10183665_10183666insAGTTCCTCCGGGCCGGACTCTTCCGGGCC , CM000665.1:g.10183665_10183666insAGTTCCTCCGGGCCGGACTCTTCCGGGCC	GRCh37
NC_000003.10:g.10158665_10158666insAGTTCCTCCGGGCCGGACTCTTCCGGGCC	NCBI36
NG_008212.3:g.5347_5348insAGTTCCTCCGGGCCGGACTCTTCCGGGCC , LRG_322:g.5347_5348insAGTTCCTCCGGGCCGGACTCTTCCGGGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC	ENSP00000512434.1:p.Glu46ValfsTer31
ENST00000696143.1:c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC	ENSP00000512435.1:p.Glu46ValfsTer31
ENST00000696153.1:c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC	ENSP00000512444.1:p.Glu46ValfsTer31
ENST00000256474.3:c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC MANE Select	ENSP00000256474.3:p.Glu46ValfsTer31
ENST00000256474.2:c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC	ENSP00000256474.2:p.Glu46ValfsTer31
ENST00000345392.2:c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC	ENSP00000344757.2:p.Glu46ValfsTer31
NM_000551.3:c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC , LRG_322t1:c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC	NP_000542.1:p.Glu46ValfsTer31
NM_198156.2:c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC	NP_937799.1:p.Glu46ValfsTer31
XM_011534078.1:c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC	XP_011532380.1:p.Glu46ValfsTer31
NM_001354723.1:c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC	NP_001341652.1:p.Glu46ValfsTer31
NM_000551.4:c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC MANE Select	NP_000542.1:p.Glu46ValfsTer31
NM_001354723.2:c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC	NP_001341652.1:p.Glu46ValfsTer31
NM_198156.3:c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC	NP_937799.1:p.Glu46ValfsTer31