Canonical Allele Identifier: CA913189233

Gene: VHL

Linked Data

• CIViC: CA913189233

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149912del , CM000665.2:g.10149912del	GRCh38
NC_000003.11:g.10191596del , CM000665.1:g.10191596del	GRCh37
NC_000003.10:g.10166596del	NCBI36
NG_008212.3:g.13278del , LRG_322:g.13278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*266del	ENSP00000512434.1:n.*266del
ENST00000696143.1:c.725del	ENSP00000512435.1:n.725del
ENST00000696153.1:c.700del	ENSP00000512444.1:p.Asp234ThrfsTer5
ENST00000256474.3:c.589del MANE Select	ENSP00000256474.3:p.Asp197ThrfsTer5
ENST00000256474.2:c.589del	ENSP00000256474.2:p.Asp197ThrfsTer5
ENST00000345392.2:c.466del	ENSP00000344757.2:p.Asp156ThrfsTer5
ENST00000477538.1:n.725del
NM_000551.3:c.589del , LRG_322t1:c.589del	NP_000542.1:p.Asp197ThrfsTer5
NM_198156.2:c.466del	NP_937799.1:p.Asp156ThrfsTer5
NM_001354723.1:c.*143del	NP_001341652.1:n.*143del
NM_000551.4:c.589del MANE Select	NP_000542.1:p.Asp197ThrfsTer5
NM_001354723.2:c.*143del	NP_001341652.1:n.*143del
NM_198156.3:c.466del	NP_937799.1:p.Asp156ThrfsTer5