Canonical Allele Identifier: CA2792540733
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410272_68410273insA , CM000673.2:g.68410272_68410273insA GRCh38
NC_000011.9:g.68177740_68177741insA , CM000673.1:g.68177740_68177741insA GRCh37
NC_000011.8:g.67934316_67934317insA NCBI36
NG_015835.1:g.102633_102634insA
NG_015835.2:g.102633_102634insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2318+132_2318+133insA MANE Select ENSP00000294304.6:n.2318+132_2318+133insA
ENST00000294304.11:c.2318+132_2318+133insA ENSP00000294304.6:n.2318+132_2318+133insA
ENST00000528714.1:n.112+132_112+133insA
ENST00000529993.5:c.*924+132_*924+133insA ENSP00000436652.1:n.*924+132_*924+133insA
NM_001291902.1:c.575+132_575+133insA NP_001278831.1:n.575+132_575+133insA
NM_002335.3:c.2318+132_2318+133insA NP_002326.2:n.2318+132_2318+133insA
XM_005273994.2:c.2318+132_2318+133insA XP_005274051.1:n.2318+132_2318+133insA
XM_011545029.1:c.2345+132_2345+133insA XP_011543331.1:n.2345+132_2345+133insA
XM_011545030.1:c.2345+132_2345+133insA XP_011543332.1:n.2345+132_2345+133insA
XM_011545031.1:c.2345+132_2345+133insA XP_011543333.1:n.2345+132_2345+133insA
XR_949925.1:n.2360+132_2360+133insA
XR_949926.1:n.2360+132_2360+133insA
XM_017017735.1:c.575+132_575+133insA XP_016873224.1:n.575+132_575+133insA
XR_001747874.1:n.2360+132_2360+133insA
XR_949925.2:n.2360+132_2360+133insA
XR_949926.2:n.2360+132_2360+133insA
NM_002335.4:c.2318+132_2318+133insA MANE Select NP_002326.2:n.2318+132_2318+133insA
NM_001291902.2:c.575+132_575+133insA NP_001278831.1:n.575+132_575+133insA