Canonical Allele Identifier: CA645574957
Gene: LRP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68406579_68406582del , CM000673.2:g.68406579_68406582del GRCh38
NC_000011.9:g.68174047_68174050del , CM000673.1:g.68174047_68174050del GRCh37
NC_000011.8:g.67930623_67930626del NCBI36
NG_015835.1:g.98940_98943del
NG_015835.2:g.98940_98943del

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1857_1860del MANE Select ENSP00000294304.6:p.Pro620ThrfsTer14
ENST00000294304.11:c.1857_1860del ENSP00000294304.6:p.Pro620ThrfsTer14
ENST00000529993.5:c.*463_*466del ENSP00000436652.1:n.*463_*466del
NM_001291902.1:c.114_117del NP_001278831.1:p.Pro39ThrfsTer14
NM_002335.3:c.1857_1860del NP_002326.2:p.Pro620ThrfsTer14
XM_005273994.2:c.1857_1860del XP_005274051.1:p.Pro620ThrfsTer14
XM_011545029.1:c.1884_1887del XP_011543331.1:p.Pro629ThrfsTer14
XM_011545030.1:c.1884_1887del XP_011543332.1:p.Pro629ThrfsTer14
XM_011545031.1:c.1884_1887del XP_011543333.1:p.Pro629ThrfsTer14
XR_949925.1:n.1899_1902del
XR_949926.1:n.1899_1902del
XM_017017735.1:c.114_117del XP_016873224.1:p.Pro39ThrfsTer14
XR_001747874.1:n.1899_1902del
XR_949925.2:n.1899_1902del
XR_949926.2:n.1899_1902del
NM_002335.4:c.1857_1860del MANE Select NP_002326.2:p.Pro620ThrfsTer14
NM_001291902.2:c.114_117del NP_001278831.1:p.Pro39ThrfsTer14