Canonical Allele Identifier: CA432423723

Gene: VHL

Linked Data

• COSMIC: COSM255076
• MyVariant Identifiers: chr3:g.10191579del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149895del , CM000665.2:g.10149895del	GRCh38
NC_000003.11:g.10191579del , CM000665.1:g.10191579del	GRCh37
NC_000003.10:g.10166579del	NCBI36
NG_008212.3:g.13261del , LRG_322:g.13261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*249del	ENSP00000512434.1:n.*249del
ENST00000696143.1:c.708del	ENSP00000512435.1:n.708del
ENST00000696153.1:c.683del	ENSP00000512444.1:p.His228ProfsTer11
ENST00000256474.3:c.572del MANE Select	ENSP00000256474.3:p.His191ProfsTer11
ENST00000256474.2:c.572del	ENSP00000256474.2:p.His191ProfsTer11
ENST00000345392.2:c.449del	ENSP00000344757.2:p.His150ProfsTer11
ENST00000477538.1:n.708del
NM_000551.3:c.572del , LRG_322t1:c.572del	NP_000542.1:p.His191ProfsTer11
NM_198156.2:c.449del	NP_937799.1:p.His150ProfsTer11
NM_001354723.1:c.*126del	NP_001341652.1:n.*126del
NM_000551.4:c.572del MANE Select	NP_000542.1:p.His191ProfsTer11
NM_001354723.2:c.*126del	NP_001341652.1:n.*126del
NM_198156.3:c.449del	NP_937799.1:p.His150ProfsTer11