Canonical Allele Identifier: CA1345066867

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142512_10142521delinsATTTTTATAT , CM000665.2:g.10142512_10142521delinsATTTTTATAT	GRCh38
NC_000003.11:g.10184196_10184205delinsATTTTTATAT , CM000665.1:g.10184196_10184205delinsATTTTTATAT	GRCh37
NC_000003.10:g.10159196_10159205delinsATTTTTATAT	NCBI36
NG_008212.3:g.5878_5887delinsATTTTTATAT , LRG_322:g.5878_5887delinsATTTTTATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.341-251_341-242delinsATTTTTATAT	ENSP00000512434.1:n.341-251_341-242delinsATTTTTATAT
ENST00000696143.1:c.341-251_341-242delinsATTTTTATAT	ENSP00000512435.1:n.341-251_341-242delinsATTTTTATAT
ENST00000696153.1:c.340+325_340+334delinsATTTTTATAT	ENSP00000512444.1:n.340+325_340+334delinsATTTTTATAT
ENST00000256474.3:c.340+325_340+334delinsATTTTTATAT MANE Select	ENSP00000256474.3:n.340+325_340+334delinsATTTTTATAT
ENST00000256474.2:c.340+325_340+334delinsATTTTTATAT	ENSP00000256474.2:n.340+325_340+334delinsATTTTTATAT
ENST00000345392.2:c.340+325_340+334delinsATTTTTATAT	ENSP00000344757.2:n.340+325_340+334delinsATTTTTATAT
NM_000551.3:c.340+325_340+334delinsATTTTTATAT , LRG_322t1:c.340+325_340+334delinsATTTTTATAT	NP_000542.1:n.340+325_340+334delinsATTTTTATAT
NM_198156.2:c.340+325_340+334delinsATTTTTATAT	NP_937799.1:n.340+325_340+334delinsATTTTTATAT
XM_011534078.1:c.341-251_341-242delinsATTTTTATAT	XP_011532380.1:n.341-251_341-242delinsATTTTTATAT
NM_001354723.1:c.341-251_341-242delinsATTTTTATAT	NP_001341652.1:n.341-251_341-242delinsATTTTTATAT
NM_000551.4:c.340+325_340+334delinsATTTTTATAT MANE Select	NP_000542.1:n.340+325_340+334delinsATTTTTATAT
NM_001354723.2:c.341-251_341-242delinsATTTTTATAT	NP_001341652.1:n.341-251_341-242delinsATTTTTATAT
NM_198156.3:c.340+325_340+334delinsATTTTTATAT	NP_937799.1:n.340+325_340+334delinsATTTTTATAT