Canonical Allele Identifier: CA645524999

Gene: VHL

Linked Data

• COSMIC: COSM674221

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146617_10146619delinsGG , CM000665.2:g.10146617_10146619delinsGG	GRCh38
NC_000003.11:g.10188301_10188303delinsGG , CM000665.1:g.10188301_10188303delinsGG	GRCh37
NC_000003.10:g.10163301_10163303delinsGG	NCBI36
NG_008212.3:g.9983_9985delinsGG , LRG_322:g.9983_9985delinsGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*121_*123delinsGG	ENSP00000512434.1:n.*121_*123delinsGG
ENST00000696143.1:c.600-3170_600-3168delinsGG	ENSP00000512435.1:n.600-3170_600-3168deli...
ENST00000696153.1:c.444_446delinsGG	ENSP00000512444.1:p.Phe148LeufsTer21
ENST00000256474.3:c.444_446delinsGG MANE Select	ENSP00000256474.3:p.Phe148LeufsTer11
ENST00000256474.2:c.444_446delinsGG	ENSP00000256474.2:p.Phe148LeufsTer11
ENST00000345392.2:c.341-3170_341-3168delinsGG	ENSP00000344757.2:n.341-3170_341-3168deli...
ENST00000477538.1:n.580_582delinsGG
NM_000551.3:c.444_446delinsGG , LRG_322t1:c.444_446delinsGG	NP_000542.1:p.Phe148LeufsTer11
NM_198156.2:c.341-3170_341-3168delinsGG	NP_937799.1:n.341-3170_341-3168delinsGG
NM_001354723.1:c.*18-3170_*18-3168delinsGG	NP_001341652.1:n.*18-3170_*18-3168delinsG...
NM_000551.4:c.444_446delinsGG MANE Select	NP_000542.1:p.Phe148LeufsTer11
NM_001354723.2:c.*18-3170_*18-3168delinsGG	NP_001341652.1:n.*18-3170_*18-3168delinsG...
NM_198156.3:c.341-3170_341-3168delinsGG	NP_937799.1:n.341-3170_341-3168delinsGG