Canonical Allele Identifier: CA1345068991

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10145133_10145134delinsGC , CM000665.2:g.10145133_10145134delinsGC	GRCh38
NC_000003.11:g.10186817_10186818delinsGC , CM000665.1:g.10186817_10186818delinsGC	GRCh37
NC_000003.10:g.10161817_10161818delinsGC	NCBI36
NG_008212.3:g.8499_8500delinsGC , LRG_322:g.8499_8500delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-1381_*18-1380delinsGC	ENSP00000512434.1:n.*18-1381_*18-1380deli...
ENST00000696143.1:c.599+2112_599+2113delinsGC	ENSP00000512435.1:n.599+2112_599+2113deli...
ENST00000696153.1:c.341-1381_341-1380delinsGC	ENSP00000512444.1:n.341-1381_341-1380deli...
ENST00000256474.3:c.341-1381_341-1380delinsGC MANE Select	ENSP00000256474.3:n.341-1381_341-1380deli...
ENST00000256474.2:c.341-1381_341-1380delinsGC	ENSP00000256474.2:n.341-1381_341-1380deli...
ENST00000345392.2:c.340+2946_340+2947delinsGC	ENSP00000344757.2:n.340+2946_340+2947deli...
ENST00000477538.1:n.477-1381_477-1380delinsGC
NM_000551.3:c.341-1381_341-1380delinsGC , LRG_322t1:c.341-1381_341-1380delinsGC	NP_000542.1:n.341-1381_341-1380delinsGC
NM_198156.2:c.340+2946_340+2947delinsGC	NP_937799.1:n.340+2946_340+2947delinsGC
XM_011534078.1:c.*18-1381_*18-1380delinsGC	XP_011532380.1:n.*18-1381_*18-1380delinsG...
NM_001354723.1:c.*17+2112_*17+2113delinsGC	NP_001341652.1:n.*17+2112_*17+2113delinsG...
NM_000551.4:c.341-1381_341-1380delinsGC MANE Select	NP_000542.1:n.341-1381_341-1380delinsGC
NM_001354723.2:c.*17+2112_*17+2113delinsGC	NP_001341652.1:n.*17+2112_*17+2113delinsG...
NM_198156.3:c.340+2946_340+2947delinsGC	NP_937799.1:n.340+2946_340+2947delinsGC