Canonical Allele Identifier: CA2792540668
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410227_68410228insA , CM000673.2:g.68410227_68410228insA GRCh38
NC_000011.9:g.68177695_68177696insA , CM000673.1:g.68177695_68177696insA GRCh37
NC_000011.8:g.67934271_67934272insA NCBI36
NG_015835.1:g.102588_102589insA
NG_015835.2:g.102588_102589insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2318+87_2318+88insA MANE Select ENSP00000294304.6:n.2318+87_2318+88insA
ENST00000294304.11:c.2318+87_2318+88insA ENSP00000294304.6:n.2318+87_2318+88insA
ENST00000528714.1:n.112+87_112+88insA
ENST00000529993.5:c.*924+87_*924+88insA ENSP00000436652.1:n.*924+87_*924+88insA
NM_001291902.1:c.575+87_575+88insA NP_001278831.1:n.575+87_575+88insA
NM_002335.3:c.2318+87_2318+88insA NP_002326.2:n.2318+87_2318+88insA
XM_005273994.2:c.2318+87_2318+88insA XP_005274051.1:n.2318+87_2318+88insA
XM_011545029.1:c.2345+87_2345+88insA XP_011543331.1:n.2345+87_2345+88insA
XM_011545030.1:c.2345+87_2345+88insA XP_011543332.1:n.2345+87_2345+88insA
XM_011545031.1:c.2345+87_2345+88insA XP_011543333.1:n.2345+87_2345+88insA
XR_949925.1:n.2360+87_2360+88insA
XR_949926.1:n.2360+87_2360+88insA
XM_017017735.1:c.575+87_575+88insA XP_016873224.1:n.575+87_575+88insA
XR_001747874.1:n.2360+87_2360+88insA
XR_949925.2:n.2360+87_2360+88insA
XR_949926.2:n.2360+87_2360+88insA
NM_002335.4:c.2318+87_2318+88insA MANE Select NP_002326.2:n.2318+87_2318+88insA
NM_001291902.2:c.575+87_575+88insA NP_001278831.1:n.575+87_575+88insA