Canonical Allele Identifier: CA1345068905

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144927_10144929delinsATT , CM000665.2:g.10144927_10144929delinsATT	GRCh38
NC_000003.11:g.10186611_10186613delinsATT , CM000665.1:g.10186611_10186613delinsATT	GRCh37
NC_000003.10:g.10161611_10161613delinsATT	NCBI36
NG_008212.3:g.8293_8295delinsATT , LRG_322:g.8293_8295delinsATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-1587_*18-1585delinsATT	ENSP00000512434.1:n.*18-1587_*18-1585delinsATT
ENST00000696143.1:c.599+1906_599+1908delinsATT	ENSP00000512435.1:n.599+1906_599+1908delinsATT
ENST00000696153.1:c.341-1587_341-1585delinsATT	ENSP00000512444.1:n.341-1587_341-1585delinsATT
ENST00000256474.3:c.341-1587_341-1585delinsATT MANE Select	ENSP00000256474.3:n.341-1587_341-1585delinsATT
ENST00000256474.2:c.341-1587_341-1585delinsATT	ENSP00000256474.2:n.341-1587_341-1585delinsATT
ENST00000345392.2:c.340+2740_340+2742delinsATT	ENSP00000344757.2:n.340+2740_340+2742delinsATT
ENST00000477538.1:n.477-1587_477-1585delinsATT
NM_000551.3:c.341-1587_341-1585delinsATT , LRG_322t1:c.341-1587_341-1585delinsATT	NP_000542.1:n.341-1587_341-1585delinsATT
NM_198156.2:c.340+2740_340+2742delinsATT	NP_937799.1:n.340+2740_340+2742delinsATT
XM_011534078.1:c.*18-1587_*18-1585delinsATT	XP_011532380.1:n.*18-1587_*18-1585delinsATT
NM_001354723.1:c.*17+1906_*17+1908delinsATT	NP_001341652.1:n.*17+1906_*17+1908delinsATT
NM_000551.4:c.341-1587_341-1585delinsATT MANE Select	NP_000542.1:n.341-1587_341-1585delinsATT
NM_001354723.2:c.*17+1906_*17+1908delinsATT	NP_001341652.1:n.*17+1906_*17+1908delinsATT
NM_198156.3:c.340+2740_340+2742delinsATT	NP_937799.1:n.340+2740_340+2742delinsATT