Canonical Allele Identifier: CA10602864
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 279916
dbSNP Id: rs886041253

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141836_10141849dup , CM000665.2:g.10141836_10141849dup GRCh38
NC_000003.11:g.10183520_10183533dup , CM000665.1:g.10183520_10183533dup GRCh37
NC_000003.10:g.10158520_10158533dup NCBI36
NG_008212.3:g.5202_5215dup , LRG_322:g.5202_5215dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.-12_2dup ENSP00000512434.1:p.Met1IlefsTer18
ENST00000696153.1:c.-12_2dup ENSP00000512444.1:p.Met1IlefsTer18
ENST00000256474.3:c.-12_2dup MANE Select ENSP00000256474.3:p.Met1IlefsTer18
ENST00000256474.2:c.-12_2dup ENSP00000256474.2:p.Met1IlefsTer18
ENST00000345392.2:c.-12_2dup ENSP00000344757.2:p.Met1IlefsTer18
NM_000551.3:c.-12_2dup , LRG_322t1:c.-12_2dup NP_000542.1:p.Met1IlefsTer18
NM_198156.2:c.-12_2dup NP_937799.1:p.Met1IlefsTer18
XM_011534078.1:c.-12_2dup XP_011532380.1:p.Met1IlefsTer18
NM_001354723.1:c.-12_2dup NP_001341652.1:p.Met1IlefsTer18
NM_000551.4:c.-12_2dup MANE Select NP_000542.1:p.Met1IlefsTer18
NM_001354723.2:c.-12_2dup NP_001341652.1:p.Met1IlefsTer18
NM_198156.3:c.-12_2dup NP_937799.1:p.Met1IlefsTer18