Canonical Allele Identifier: CA1345062704

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149888_10149889delinsGA , CM000665.2:g.10149888_10149889delinsGA	GRCh38
NC_000003.11:g.10191572_10191573delinsGA , CM000665.1:g.10191572_10191573delinsGA	GRCh37
NC_000003.10:g.10166572_10166573delinsGA	NCBI36
NG_008212.3:g.13254_13255delinsGA , LRG_322:g.13254_13255delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*242_*243delinsGA	ENSP00000512434.1:n.*242_*243delinsGA
ENST00000696143.1:c.701_702delinsGA	ENSP00000512435.1:n.701_702delinsGA
ENST00000696153.1:c.676_677delinsGA	ENSP00000512444.1:p.Glu226=
ENST00000256474.3:c.565_566delinsGA MANE Select	ENSP00000256474.3:p.Glu189=
ENST00000256474.2:c.565_566delinsGA	ENSP00000256474.2:p.Glu189=
ENST00000345392.2:c.442_443delinsGA	ENSP00000344757.2:p.Glu148=
ENST00000477538.1:n.701_702delinsGA
NM_000551.3:c.565_566delinsGA , LRG_322t1:c.565_566delinsGA	NP_000542.1:p.Glu189=
NM_198156.2:c.442_443delinsGA	NP_937799.1:p.Glu148=
NM_001354723.1:c.*119_*120delinsGA	NP_001341652.1:n.*119_*120delinsGA
NM_000551.4:c.565_566delinsGA MANE Select	NP_000542.1:p.Glu189=
NM_001354723.2:c.*119_*120delinsGA	NP_001341652.1:n.*119_*120delinsGA
NM_198156.3:c.442_443delinsGA	NP_937799.1:p.Glu148=