Canonical Allele Identifier: CA645529550

Gene: VHL

Linked Data

• COSMIC: COSM17674

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149881_10149882insC , CM000665.2:g.10149881_10149882insC	GRCh38
NC_000003.11:g.10191565_10191566insC , CM000665.1:g.10191565_10191566insC	GRCh37
NC_000003.10:g.10166565_10166566insC	NCBI36
NG_008212.3:g.13247_13248insC , LRG_322:g.13247_13248insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*235_*236insC	ENSP00000512434.1:n.*235_*236insC
ENST00000696143.1:c.694_695insC	ENSP00000512435.1:n.694_695insC
ENST00000696153.1:c.669_670insC	ENSP00000512444.1:p.Asp224ArgfsTer?
ENST00000256474.3:c.558_559insC MANE Select	ENSP00000256474.3:p.Asp187ArgfsTer?
ENST00000256474.2:c.558_559insC	ENSP00000256474.2:p.Asp187ArgfsTer?
ENST00000345392.2:c.435_436insC	ENSP00000344757.2:p.Asp146ArgfsTer?
ENST00000477538.1:n.694_695insC
NM_000551.3:c.558_559insC , LRG_322t1:c.558_559insC	NP_000542.1:p.Asp187ArgfsTer?
NM_198156.2:c.435_436insC	NP_937799.1:p.Asp146ArgfsTer?
NM_001354723.1:c.*112_*113insC	NP_001341652.1:n.*112_*113insC
NM_000551.4:c.558_559insC MANE Select	NP_000542.1:p.Asp187ArgfsTer?
NM_001354723.2:c.*112_*113insC	NP_001341652.1:n.*112_*113insC
NM_198156.3:c.435_436insC	NP_937799.1:p.Asp146ArgfsTer?