Canonical Allele Identifier: CA16042062

Gene: VHL

Linked Data

• ClinVar Variation Id: 371945
• ClinVar RCV Id: RCV000411210 ; RCV000691373
• dbSNP Id: rs1057517592
• MyVariant Identifiers: chr3:g.10183614_10183631dup18 (hg19) ; chr3:g.10141930_10141947dup18 (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141930_10141947dup , CM000665.2:g.10141930_10141947dup	GRCh38
NC_000003.11:g.10183614_10183631dup , CM000665.1:g.10183614_10183631dup	GRCh37
NC_000003.10:g.10158614_10158631dup	NCBI36
NG_008212.3:g.5296_5313dup , LRG_322:g.5296_5313dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.83_100dup	ENSP00000512434.1:p.Ser33_Gly34insAspGlyGlyGluGluSer
ENST00000696143.1:c.83_100dup	ENSP00000512435.1:p.Ser33_Gly34insAspGlyGlyGluGluSer
ENST00000696153.1:c.83_100dup	ENSP00000512444.1:p.Ser33_Gly34insAspGlyGlyGluGluSer
ENST00000256474.3:c.83_100dup MANE Select	ENSP00000256474.3:p.Ser33_Gly34insAspGlyGlyGluGluSer
ENST00000256474.2:c.83_100dup	ENSP00000256474.2:p.Ser33_Gly34insAspGlyGlyGluGluSer
ENST00000345392.2:c.83_100dup	ENSP00000344757.2:p.Ser33_Gly34insAspGlyGlyGluGluSer
NM_000551.3:c.83_100dup , LRG_322t1:c.83_100dup	NP_000542.1:p.Ser33_Gly34insAspGlyGlyGluGluSer
NM_198156.2:c.83_100dup	NP_937799.1:p.Ser33_Gly34insAspGlyGlyGluGluSer
XM_011534078.1:c.83_100dup	XP_011532380.1:p.Ser33_Gly34insAspGlyGlyGluGluSer
NM_001354723.1:c.83_100dup	NP_001341652.1:p.Ser33_Gly34insAspGlyGlyGluGluSer
NM_000551.4:c.83_100dup MANE Select	NP_000542.1:p.Ser33_Gly34insAspGlyGlyGluGluSer
NM_001354723.2:c.83_100dup	NP_001341652.1:p.Ser33_Gly34insAspGlyGlyGluGluSer
NM_198156.3:c.83_100dup	NP_937799.1:p.Ser33_Gly34insAspGlyGlyGluGluSer