Canonical Allele Identifier: CA645524998

Gene: VHL

Linked Data

• COSMIC: COSM26792

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146617_10146618del , CM000665.2:g.10146617_10146618del	GRCh38
NC_000003.11:g.10188301_10188302del , CM000665.1:g.10188301_10188302del	GRCh37
NC_000003.10:g.10163301_10163302del	NCBI36
NG_008212.3:g.9983_9984del , LRG_322:g.9983_9984del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*121_*122del	ENSP00000512434.1:n.*121_*122del
ENST00000696143.1:c.600-3170_600-3169del	ENSP00000512435.1:n.600-3170_600-3169del
ENST00000696153.1:c.444_445del	ENSP00000512444.1:p.Ala149GlnfsTer?
ENST00000256474.3:c.444_445del MANE Select	ENSP00000256474.3:p.Ala149GlnfsTer24
ENST00000256474.2:c.444_445del	ENSP00000256474.2:p.Ala149GlnfsTer24
ENST00000345392.2:c.341-3170_341-3169del	ENSP00000344757.2:n.341-3170_341-3169del
ENST00000477538.1:n.580_581del
NM_000551.3:c.444_445del , LRG_322t1:c.444_445del	NP_000542.1:p.Ala149GlnfsTer24
NM_198156.2:c.341-3170_341-3169del	NP_937799.1:n.341-3170_341-3169del
NM_001354723.1:c.*18-3170_*18-3169del	NP_001341652.1:n.*18-3170_*18-3169del
NM_000551.4:c.444_445del MANE Select	NP_000542.1:p.Ala149GlnfsTer24
NM_001354723.2:c.*18-3170_*18-3169del	NP_001341652.1:n.*18-3170_*18-3169del
NM_198156.3:c.341-3170_341-3169del	NP_937799.1:n.341-3170_341-3169del