Canonical Allele Identifier: CA2573130363

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149857_10149858insAGAGTAAAGCCTGAACTG , CM000665.2:g.10149857_10149858insAGAGTAAAGCCTGAACTG	GRCh38
NC_000003.11:g.10191541_10191542insAGAGTAAAGCCTGAACTG , CM000665.1:g.10191541_10191542insAGAGTAAAGCCTGAACTG	GRCh37
NC_000003.10:g.10166541_10166542insAGAGTAAAGCCTGAACTG	NCBI36
NG_008212.3:g.13223_13224insAGAGTAAAGCCTGAACTG , LRG_322:g.13223_13224insAGAGTAAAGCCTGAACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*211_*212insAGAGTAAAGCCTGAACTG	ENSP00000512434.1:n.*211_*212insAGAGTAAAGCCTGAACTG
ENST00000696143.1:c.670_671insAGAGTAAAGCCTGAACTG	ENSP00000512435.1:n.670_671insAGAGTAAAGCCTGAACTG
ENST00000696153.1:c.645_646insAGAGTAAAGCCTGAACTG	ENSP00000512444.1:p.Leu215_Asp216insArgValLysProGluLeu
ENST00000256474.3:c.534_535insAGAGTAAAGCCTGAACTG MANE Select	ENSP00000256474.3:p.Leu178_Asp179insArgValLysProGluLeu
ENST00000256474.2:c.534_535insAGAGTAAAGCCTGAACTG	ENSP00000256474.2:p.Leu178_Asp179insArgValLysProGluLeu
ENST00000345392.2:c.411_412insAGAGTAAAGCCTGAACTG	ENSP00000344757.2:p.Leu137_Asp138insArgValLysProGluLeu
ENST00000477538.1:n.670_671insAGAGTAAAGCCTGAACTG
NM_000551.3:c.534_535insAGAGTAAAGCCTGAACTG , LRG_322t1:c.534_535insAGAGTAAAGCCTGAACTG	NP_000542.1:p.Leu178_Asp179insArgValLysProGluLeu
NM_198156.2:c.411_412insAGAGTAAAGCCTGAACTG	NP_937799.1:p.Leu137_Asp138insArgValLysProGluLeu
NM_001354723.1:c.*88_*89insAGAGTAAAGCCTGAACTG	NP_001341652.1:n.*88_*89insAGAGTAAAGCCTGAACTG
NM_000551.4:c.534_535insAGAGTAAAGCCTGAACTG MANE Select	NP_000542.1:p.Leu178_Asp179insArgValLysProGluLeu
NM_001354723.2:c.*88_*89insAGAGTAAAGCCTGAACTG	NP_001341652.1:n.*88_*89insAGAGTAAAGCCTGAACTG
NM_198156.3:c.411_412insAGAGTAAAGCCTGAACTG	NP_937799.1:p.Leu137_Asp138insArgValLysProGluLeu