Canonical Allele Identifier: CA432421872
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM14398
MyVariant Identifiers: chr3:g.10188276del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146592del , CM000665.2:g.10146592del GRCh38
NC_000003.11:g.10188276del , CM000665.1:g.10188276del GRCh37
NC_000003.10:g.10163276del NCBI36
NG_008212.3:g.9958del , LRG_322:g.9958del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*96del ENSP00000512434.1:n.*96del
ENST00000696143.1:c.600-3195del ENSP00000512435.1:n.600-3195del
ENST00000696153.1:c.419del ENSP00000512444.1:p.Leu140ProfsTer29
ENST00000256474.3:c.419del MANE Select ENSP00000256474.3:p.Leu140ProfsTer19
ENST00000256474.2:c.419del ENSP00000256474.2:p.Leu140ProfsTer19
ENST00000345392.2:c.341-3195del ENSP00000344757.2:n.341-3195del
ENST00000477538.1:n.555del
NM_000551.3:c.419del , LRG_322t1:c.419del NP_000542.1:p.Leu140ProfsTer19
NM_198156.2:c.341-3195del NP_937799.1:n.341-3195del
XM_011534078.1:c.*96del XP_011532380.1:n.*96del
NM_001354723.1:c.*18-3195del NP_001341652.1:n.*18-3195del
NM_000551.4:c.419del MANE Select NP_000542.1:p.Leu140ProfsTer19
NM_001354723.2:c.*18-3195del NP_001341652.1:n.*18-3195del
NM_198156.3:c.341-3195del NP_937799.1:n.341-3195del