Canonical Allele Identifier: CA645529541

Gene: VHL

Linked Data

• COSMIC: COSM249390

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149877_10149886del , CM000665.2:g.10149877_10149886del	GRCh38
NC_000003.11:g.10191561_10191570del , CM000665.1:g.10191561_10191570del	GRCh37
NC_000003.10:g.10166561_10166570del	NCBI36
NG_008212.3:g.13243_13252del , LRG_322:g.13243_13252del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*231_*240del	ENSP00000512434.1:n.*231_*240del
ENST00000696143.1:c.690_699del	ENSP00000512435.1:n.690_699del
ENST00000696153.1:c.665_674del	ENSP00000512444.1:p.Tyr222TrpfsTer14
ENST00000256474.3:c.554_563del MANE Select	ENSP00000256474.3:p.Tyr185TrpfsTer14
ENST00000256474.2:c.554_563del	ENSP00000256474.2:p.Tyr185TrpfsTer14
ENST00000345392.2:c.431_440del	ENSP00000344757.2:p.Tyr144TrpfsTer14
ENST00000477538.1:n.690_699del
NM_000551.3:c.554_563del , LRG_322t1:c.554_563del	NP_000542.1:p.Tyr185TrpfsTer14
NM_198156.2:c.431_440del	NP_937799.1:p.Tyr144TrpfsTer14
NM_001354723.1:c.*108_*117del	NP_001341652.1:n.*108_*117del
NM_000551.4:c.554_563del MANE Select	NP_000542.1:p.Tyr185TrpfsTer14
NM_001354723.2:c.*108_*117del	NP_001341652.1:n.*108_*117del
NM_198156.3:c.431_440del	NP_937799.1:p.Tyr144TrpfsTer14