Canonical Allele Identifier: CA645524996

Gene: VHL

Linked Data

• COSMIC: COSM253377

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146614delinsAA , CM000665.2:g.10146614delinsAA	GRCh38
NC_000003.11:g.10188298delinsAA , CM000665.1:g.10188298delinsAA	GRCh37
NC_000003.10:g.10163298delinsAA	NCBI36
NG_008212.3:g.9980delinsAA , LRG_322:g.9980delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*118delinsAA	ENSP00000512434.1:n.*118delinsAA
ENST00000696143.1:c.600-3173delinsAA	ENSP00000512435.1:n.600-3173delinsAA
ENST00000696153.1:c.441delinsAA	ENSP00000512444.1:p.Phe148IlefsTer?
ENST00000256474.3:c.441delinsAA MANE Select	ENSP00000256474.3:p.Phe148IlefsTer26
ENST00000256474.2:c.441delinsAA	ENSP00000256474.2:p.Phe148IlefsTer26
ENST00000345392.2:c.341-3173delinsAA	ENSP00000344757.2:n.341-3173delinsAA
ENST00000477538.1:n.577delinsAA
NM_000551.3:c.441delinsAA , LRG_322t1:c.441delinsAA	NP_000542.1:p.Phe148IlefsTer26
NM_198156.2:c.341-3173delinsAA	NP_937799.1:n.341-3173delinsAA
NM_001354723.1:c.*18-3173delinsAA	NP_001341652.1:n.*18-3173delinsAA
NM_000551.4:c.441delinsAA MANE Select	NP_000542.1:p.Phe148IlefsTer26
NM_001354723.2:c.*18-3173delinsAA	NP_001341652.1:n.*18-3173delinsAA
NM_198156.3:c.341-3173delinsAA	NP_937799.1:n.341-3173delinsAA