Canonical Allele Identifier: CA645529562

Gene: VHL

Linked Data

• COSMIC: COSM30334

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149891dup , CM000665.2:g.10149891dup	GRCh38
NC_000003.11:g.10191575dup , CM000665.1:g.10191575dup	GRCh37
NC_000003.10:g.10166575dup	NCBI36
NG_008212.3:g.13257dup , LRG_322:g.13257dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*245dup	ENSP00000512434.1:n.*245dup
ENST00000696143.1:c.704dup	ENSP00000512435.1:n.704dup
ENST00000696153.1:c.679dup	ENSP00000512444.1:p.Asp227GlyfsTer?
ENST00000256474.3:c.568dup MANE Select	ENSP00000256474.3:p.Asp190GlyfsTer?
ENST00000256474.2:c.568dup	ENSP00000256474.2:p.Asp190GlyfsTer?
ENST00000345392.2:c.445dup	ENSP00000344757.2:p.Asp149GlyfsTer?
ENST00000477538.1:n.704dup
NM_000551.3:c.568dup , LRG_322t1:c.568dup	NP_000542.1:p.Asp190GlyfsTer?
NM_198156.2:c.445dup	NP_937799.1:p.Asp149GlyfsTer?
NM_001354723.1:c.*122dup	NP_001341652.1:n.*122dup
NM_000551.4:c.568dup MANE Select	NP_000542.1:p.Asp190GlyfsTer?
NM_001354723.2:c.*122dup	NP_001341652.1:n.*122dup
NM_198156.3:c.445dup	NP_937799.1:p.Asp149GlyfsTer?