Canonical Allele Identifier: CA432423804

Gene: VHL

Linked Data

• COSMIC: COSM255078
• MyVariant Identifiers: chr3:g.10191597del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149913del , CM000665.2:g.10149913del	GRCh38
NC_000003.11:g.10191597del , CM000665.1:g.10191597del	GRCh37
NC_000003.10:g.10166597del	NCBI36
NG_008212.3:g.13279del , LRG_322:g.13279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*267del	ENSP00000512434.1:n.*267del
ENST00000696143.1:c.726del	ENSP00000512435.1:n.726del
ENST00000696153.1:c.701del	ENSP00000512444.1:p.Asp234AlafsTer5
ENST00000256474.3:c.590del MANE Select	ENSP00000256474.3:p.Asp197AlafsTer5
ENST00000256474.2:c.590del	ENSP00000256474.2:p.Asp197AlafsTer5
ENST00000345392.2:c.467del	ENSP00000344757.2:p.Asp156AlafsTer5
ENST00000477538.1:n.726del
NM_000551.3:c.590del , LRG_322t1:c.590del	NP_000542.1:p.Asp197AlafsTer5
NM_198156.2:c.467del	NP_937799.1:p.Asp156AlafsTer5
NM_001354723.1:c.*144del	NP_001341652.1:n.*144del
NM_000551.4:c.590del MANE Select	NP_000542.1:p.Asp197AlafsTer5
NM_001354723.2:c.*144del	NP_001341652.1:n.*144del
NM_198156.3:c.467del	NP_937799.1:p.Asp156AlafsTer5