Canonical Allele Identifier: CA645529524

Gene: VHL

Linked Data

• COSMIC: COSM1169659

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149855dup , CM000665.2:g.10149855dup	GRCh38
NC_000003.11:g.10191539dup , CM000665.1:g.10191539dup	GRCh37
NC_000003.10:g.10166539dup	NCBI36
NG_008212.3:g.13221dup , LRG_322:g.13221dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*209dup	ENSP00000512434.1:n.*209dup
ENST00000696143.1:c.668dup	ENSP00000512435.1:n.668dup
ENST00000696153.1:c.643dup	ENSP00000512444.1:p.Leu215ProfsTer?
ENST00000256474.3:c.532dup MANE Select	ENSP00000256474.3:p.Leu178ProfsTer?
ENST00000256474.2:c.532dup	ENSP00000256474.2:p.Leu178ProfsTer?
ENST00000345392.2:c.409dup	ENSP00000344757.2:p.Leu137ProfsTer?
ENST00000477538.1:n.668dup
NM_000551.3:c.532dup , LRG_322t1:c.532dup	NP_000542.1:p.Leu178ProfsTer?
NM_198156.2:c.409dup	NP_937799.1:p.Leu137ProfsTer?
NM_001354723.1:c.*86dup	NP_001341652.1:n.*86dup
NM_000551.4:c.532dup MANE Select	NP_000542.1:p.Leu178ProfsTer?
NM_001354723.2:c.*86dup	NP_001341652.1:n.*86dup
NM_198156.3:c.409dup	NP_937799.1:p.Leu137ProfsTer?