Canonical Allele Identifier: CA645524826

Gene: VHL

Linked Data

• COSMIC: COSM34001

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142147_10142148delinsT , CM000665.2:g.10142147_10142148delinsT	GRCh38
NC_000003.11:g.10183831_10183832delinsT , CM000665.1:g.10183831_10183832delinsT	GRCh37
NC_000003.10:g.10158831_10158832delinsT	NCBI36
NG_008212.3:g.5513_5514delinsT , LRG_322:g.5513_5514delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.300_301delinsT	ENSP00000512434.1:p.Leu101CysfsTer16
ENST00000696143.1:c.300_301delinsT	ENSP00000512435.1:p.Leu101CysfsTer16
ENST00000696153.1:c.300_301delinsT	ENSP00000512444.1:p.Leu101CysfsTer?
ENST00000256474.3:c.300_301delinsT MANE Select	ENSP00000256474.3:p.Leu101CysfsTer?
ENST00000256474.2:c.300_301delinsT	ENSP00000256474.2:p.Leu101CysfsTer?
ENST00000345392.2:c.300_301delinsT	ENSP00000344757.2:p.Leu101CysfsTer17
NM_000551.3:c.300_301delinsT , LRG_322t1:c.300_301delinsT	NP_000542.1:p.Leu101CysfsTer?
NM_198156.2:c.300_301delinsT	NP_937799.1:p.Leu101CysfsTer17
XM_011534078.1:c.300_301delinsT	XP_011532380.1:p.Leu101CysfsTer16
NM_001354723.1:c.300_301delinsT	NP_001341652.1:p.Leu101CysfsTer16
NM_000551.4:c.300_301delinsT MANE Select	NP_000542.1:p.Leu101CysfsTer?
NM_001354723.2:c.300_301delinsT	NP_001341652.1:p.Leu101CysfsTer16
NM_198156.3:c.300_301delinsT	NP_937799.1:p.Leu101CysfsTer17