Canonical Allele Identifier: CA645529555

Gene: VHL

Linked Data

• COSMIC: COSM4770206

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149884_10149890delinsG , CM000665.2:g.10149884_10149890delinsG	GRCh38
NC_000003.11:g.10191568_10191574delinsG , CM000665.1:g.10191568_10191574delinsG	GRCh37
NC_000003.10:g.10166568_10166574delinsG	NCBI36
NG_008212.3:g.13250_13256delinsG , LRG_322:g.13250_13256delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*238_*244delinsG	ENSP00000512434.1:n.*238_*244delinsG
ENST00000696143.1:c.697_703delinsG	ENSP00000512435.1:n.697_703delinsG
ENST00000696153.1:c.672_678delinsG	ENSP00000512444.1:p.Asp224_Leu225del
ENST00000256474.3:c.561_567delinsG MANE Select	ENSP00000256474.3:p.Asp187_Leu188del
ENST00000256474.2:c.561_567delinsG	ENSP00000256474.2:p.Asp187_Leu188del
ENST00000345392.2:c.438_444delinsG	ENSP00000344757.2:p.Asp146_Leu147del
ENST00000477538.1:n.697_703delinsG
NM_000551.3:c.561_567delinsG , LRG_322t1:c.561_567delinsG	NP_000542.1:p.Asp187_Leu188del
NM_198156.2:c.438_444delinsG	NP_937799.1:p.Asp146_Leu147del
NM_001354723.1:c.*115_*121delinsG	NP_001341652.1:n.*115_*121delinsG
NM_000551.4:c.561_567delinsG MANE Select	NP_000542.1:p.Asp187_Leu188del
NM_001354723.2:c.*115_*121delinsG	NP_001341652.1:n.*115_*121delinsG
NM_198156.3:c.438_444delinsG	NP_937799.1:p.Asp146_Leu147del