Canonical Allele Identifier: CA2574900886
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68409926del , CM000673.2:g.68409926del GRCh38
NC_000011.9:g.68177394del , CM000673.1:g.68177394del GRCh37
NC_000011.8:g.67933970del NCBI36
NG_015835.1:g.102287del
NG_015835.2:g.102287del

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2104del MANE Select ENSP00000294304.6:p.Ala702ProfsTer3
ENST00000294304.11:c.2104del ENSP00000294304.6:p.Ala702ProfsTer3
ENST00000529993.5:c.*710del ENSP00000436652.1:n.*710del
NM_001291902.1:c.361del NP_001278831.1:p.Ala121ProfsTer3
NM_002335.3:c.2104del NP_002326.2:p.Ala702ProfsTer3
XM_005273994.2:c.2104del XP_005274051.1:p.Ala702ProfsTer3
XM_011545029.1:c.2131del XP_011543331.1:p.Ala711ProfsTer3
XM_011545030.1:c.2131del XP_011543332.1:p.Ala711ProfsTer3
XM_011545031.1:c.2131del XP_011543333.1:p.Ala711ProfsTer3
XR_949925.1:n.2146del
XR_949926.1:n.2146del
XM_017017735.1:c.361del XP_016873224.1:p.Ala121ProfsTer3
XR_001747874.1:n.2146del
XR_949925.2:n.2146del
XR_949926.2:n.2146del
NM_002335.4:c.2104del MANE Select NP_002326.2:p.Ala702ProfsTer3
NM_001291902.2:c.361del NP_001278831.1:p.Ala121ProfsTer3