Canonical Allele Identifier: CA645529545

Gene: VHL

Linked Data

• COSMIC: COSM17984

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149879_10149885del , CM000665.2:g.10149879_10149885del	GRCh38
NC_000003.11:g.10191563_10191569del , CM000665.1:g.10191563_10191569del	GRCh37
NC_000003.10:g.10166563_10166569del	NCBI36
NG_008212.3:g.13245_13251del , LRG_322:g.13245_13251del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*233_*239del	ENSP00000512434.1:n.*233_*239del
ENST00000696143.1:c.692_698del	ENSP00000512435.1:n.692_698del
ENST00000696153.1:c.667_673del	ENSP00000512444.1:p.Glu223TrpfsTer14
ENST00000256474.3:c.556_562del MANE Select	ENSP00000256474.3:p.Glu186TrpfsTer14
ENST00000256474.2:c.556_562del	ENSP00000256474.2:p.Glu186TrpfsTer14
ENST00000345392.2:c.433_439del	ENSP00000344757.2:p.Glu145TrpfsTer14
ENST00000477538.1:n.692_698del
NM_000551.3:c.556_562del , LRG_322t1:c.556_562del	NP_000542.1:p.Glu186TrpfsTer14
NM_198156.2:c.433_439del	NP_937799.1:p.Glu145TrpfsTer14
NM_001354723.1:c.*110_*116del	NP_001341652.1:n.*110_*116del
NM_000551.4:c.556_562del MANE Select	NP_000542.1:p.Glu186TrpfsTer14
NM_001354723.2:c.*110_*116del	NP_001341652.1:n.*110_*116del
NM_198156.3:c.433_439del	NP_937799.1:p.Glu145TrpfsTer14