Canonical Allele Identifier: CA645525046

Gene: VHL

Linked Data

• COSMIC: COSM17992

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149795_10149813del , CM000665.2:g.10149795_10149813del	GRCh38
NC_000003.11:g.10191479_10191497del , CM000665.1:g.10191479_10191497del	GRCh37
NC_000003.10:g.10166479_10166497del	NCBI36
NG_008212.3:g.13161_13179del , LRG_322:g.13161_13179del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*149_*167del	ENSP00000512434.1:n.*149_*167del
ENST00000696143.1:c.608_626del	ENSP00000512435.1:n.608_626del
ENST00000696153.1:c.583_601del	ENSP00000512444.1:p.Leu195ArgfsTer6
ENST00000256474.3:c.472_490del MANE Select	ENSP00000256474.3:p.Leu158ArgfsTer6
ENST00000256474.2:c.472_490del	ENSP00000256474.2:p.Leu158ArgfsTer6
ENST00000345392.2:c.349_367del	ENSP00000344757.2:p.Leu117ArgfsTer6
ENST00000477538.1:n.608_626del
NM_000551.3:c.472_490del , LRG_322t1:c.472_490del	NP_000542.1:p.Leu158ArgfsTer6
NM_198156.2:c.349_367del	NP_937799.1:p.Leu117ArgfsTer6
NM_001354723.1:c.*26_*44del	NP_001341652.1:n.*26_*44del
NM_000551.4:c.472_490del MANE Select	NP_000542.1:p.Leu158ArgfsTer6
NM_001354723.2:c.*26_*44del	NP_001341652.1:n.*26_*44del
NM_198156.3:c.349_367del	NP_937799.1:p.Leu117ArgfsTer6