Canonical Allele Identifier: CA1044994499
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs727503743

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141787_10141797del , CM000665.2:g.10141787_10141797del GRCh38
NC_000003.11:g.10183471_10183481del , CM000665.1:g.10183471_10183481del GRCh37
NC_000003.10:g.10158471_10158481del NCBI36
NG_008212.3:g.5153_5163del , LRG_322:g.5153_5163del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.-61_-51del ENSP00000512444.1:n.-61_-51del
ENST00000256474.3:c.-61_-51del MANE Select ENSP00000256474.3:n.-61_-51del
ENST00000256474.2:c.-61_-51del ENSP00000256474.2:n.-61_-51del
NM_000551.3:c.-61_-51del , LRG_322t1:c.-61_-51del NP_000542.1:n.-61_-51del
NM_198156.2:c.-61_-51del NP_937799.1:n.-61_-51del
XM_011534078.1:c.-61_-51del XP_011532380.1:n.-61_-51del
NM_001354723.1:c.-61_-51del NP_001341652.1:n.-61_-51del
NM_000551.4:c.-61_-51del MANE Select NP_000542.1:n.-61_-51del
NM_001354723.2:c.-61_-51del NP_001341652.1:n.-61_-51del
NM_198156.3:c.-61_-51del NP_937799.1:n.-61_-51del