Canonical Allele Identifier: CA1345062686

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149886_10149887delinsTG , CM000665.2:g.10149886_10149887delinsTG	GRCh38
NC_000003.11:g.10191570_10191571delinsTG , CM000665.1:g.10191570_10191571delinsTG	GRCh37
NC_000003.10:g.10166570_10166571delinsTG	NCBI36
NG_008212.3:g.13252_13253delinsTG , LRG_322:g.13252_13253delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*240_*241delinsTG	ENSP00000512434.1:n.*240_*241delinsTG
ENST00000696143.1:c.699_700delinsTG	ENSP00000512435.1:n.699_700delinsTG
ENST00000696153.1:c.674_675delinsTG	ENSP00000512444.1:p.Leu225=
ENST00000256474.3:c.563_564delinsTG MANE Select	ENSP00000256474.3:p.Leu188=
ENST00000256474.2:c.563_564delinsTG	ENSP00000256474.2:p.Leu188=
ENST00000345392.2:c.440_441delinsTG	ENSP00000344757.2:p.Leu147=
ENST00000477538.1:n.699_700delinsTG
NM_000551.3:c.563_564delinsTG , LRG_322t1:c.563_564delinsTG	NP_000542.1:p.Leu188=
NM_198156.2:c.440_441delinsTG	NP_937799.1:p.Leu147=
NM_001354723.1:c.*117_*118delinsTG	NP_001341652.1:n.*117_*118delinsTG
NM_000551.4:c.563_564delinsTG MANE Select	NP_000542.1:p.Leu188=
NM_001354723.2:c.*117_*118delinsTG	NP_001341652.1:n.*117_*118delinsTG
NM_198156.3:c.440_441delinsTG	NP_937799.1:p.Leu147=