Canonical Allele Identifier: CA1345058505

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146549_10146550delinsGA , CM000665.2:g.10146549_10146550delinsGA	GRCh38
NC_000003.11:g.10188233_10188234delinsGA , CM000665.1:g.10188233_10188234delinsGA	GRCh37
NC_000003.10:g.10163233_10163234delinsGA	NCBI36
NG_008212.3:g.9915_9916delinsGA , LRG_322:g.9915_9916delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*53_*54delinsGA	ENSP00000512434.1:n.*53_*54delinsGA
ENST00000696143.1:c.600-3238_600-3237delinsGA	ENSP00000512435.1:n.600-3238_600-3237delinsGA
ENST00000696153.1:c.376_377delinsGA	ENSP00000512444.1:p.Asp126=
ENST00000256474.3:c.376_377delinsGA MANE Select	ENSP00000256474.3:p.Asp126=
ENST00000256474.2:c.376_377delinsGA	ENSP00000256474.2:p.Asp126=
ENST00000345392.2:c.341-3238_341-3237delinsGA	ENSP00000344757.2:n.341-3238_341-3237delinsGA
ENST00000477538.1:n.512_513delinsGA
NM_000551.3:c.376_377delinsGA , LRG_322t1:c.376_377delinsGA	NP_000542.1:p.Asp126=
NM_198156.2:c.341-3238_341-3237delinsGA	NP_937799.1:n.341-3238_341-3237delinsGA
XM_011534078.1:c.*53_*54delinsGA	XP_011532380.1:n.*53_*54delinsGA
NM_001354723.1:c.*18-3238_*18-3237delinsGA	NP_001341652.1:n.*18-3238_*18-3237delinsGA
NM_000551.4:c.376_377delinsGA MANE Select	NP_000542.1:p.Asp126=
NM_001354723.2:c.*18-3238_*18-3237delinsGA	NP_001341652.1:n.*18-3238_*18-3237delinsGA
NM_198156.3:c.341-3238_341-3237delinsGA	NP_937799.1:n.341-3238_341-3237delinsGA