Canonical Allele Identifier: CA645525047

Gene: VHL

Linked Data

• COSMIC: COSM1169463

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149796_10149797del , CM000665.2:g.10149796_10149797del	GRCh38
NC_000003.11:g.10191480_10191481del , CM000665.1:g.10191480_10191481del	GRCh37
NC_000003.10:g.10166480_10166481del	NCBI36
NG_008212.3:g.13162_13163del , LRG_322:g.13162_13163del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*150_*151del	ENSP00000512434.1:n.*150_*151del
ENST00000696143.1:c.609_610del	ENSP00000512435.1:n.609_610del
ENST00000696153.1:c.584_585del	ENSP00000512444.1:p.Leu195GlnfsTer15
ENST00000256474.3:c.473_474del MANE Select	ENSP00000256474.3:p.Leu158GlnfsTer15
ENST00000256474.2:c.473_474del	ENSP00000256474.2:p.Leu158GlnfsTer15
ENST00000345392.2:c.350_351del	ENSP00000344757.2:p.Leu117GlnfsTer15
ENST00000477538.1:n.609_610del
NM_000551.3:c.473_474del , LRG_322t1:c.473_474del	NP_000542.1:p.Leu158GlnfsTer15
NM_198156.2:c.350_351del	NP_937799.1:p.Leu117GlnfsTer15
NM_001354723.1:c.*27_*28del	NP_001341652.1:n.*27_*28del
NM_000551.4:c.473_474del MANE Select	NP_000542.1:p.Leu158GlnfsTer15
NM_001354723.2:c.*27_*28del	NP_001341652.1:n.*27_*28del
NM_198156.3:c.350_351del	NP_937799.1:p.Leu117GlnfsTer15