Canonical Allele Identifier: CA432423097

Gene: VHL

Linked Data

• COSMIC: COSM18209
• MyVariant Identifiers: chr3:g.10191479_10191480insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149796dup , CM000665.2:g.10149796dup	GRCh38
NC_000003.11:g.10191480dup , CM000665.1:g.10191480dup	GRCh37
NC_000003.10:g.10166480dup	NCBI36
NG_008212.3:g.13162dup , LRG_322:g.13162dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*150dup	ENSP00000512434.1:n.*150dup
ENST00000696143.1:c.609dup	ENSP00000512435.1:n.609dup
ENST00000696153.1:c.584dup	ENSP00000512444.1:p.Lys196GlufsTer15
ENST00000256474.3:c.473dup MANE Select	ENSP00000256474.3:p.Lys159GlufsTer15
ENST00000256474.2:c.473dup	ENSP00000256474.2:p.Lys159GlufsTer15
ENST00000345392.2:c.350dup	ENSP00000344757.2:p.Lys118GlufsTer15
ENST00000477538.1:n.609dup
NM_000551.3:c.473dup , LRG_322t1:c.473dup	NP_000542.1:p.Lys159GlufsTer15
NM_198156.2:c.350dup	NP_937799.1:p.Lys118GlufsTer15
NM_001354723.1:c.*27dup	NP_001341652.1:n.*27dup
NM_000551.4:c.473dup MANE Select	NP_000542.1:p.Lys159GlufsTer15
NM_001354723.2:c.*27dup	NP_001341652.1:n.*27dup
NM_198156.3:c.350dup	NP_937799.1:p.Lys118GlufsTer15