Canonical Allele Identifier: CA2792540617
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410200_68410201insA , CM000673.2:g.68410200_68410201insA GRCh38
NC_000011.9:g.68177668_68177669insA , CM000673.1:g.68177668_68177669insA GRCh37
NC_000011.8:g.67934244_67934245insA NCBI36
NG_015835.1:g.102561_102562insA
NG_015835.2:g.102561_102562insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2318+60_2318+61insA MANE Select ENSP00000294304.6:n.2318+60_2318+61insA
ENST00000294304.11:c.2318+60_2318+61insA ENSP00000294304.6:n.2318+60_2318+61insA
ENST00000528714.1:n.112+60_112+61insA
ENST00000529993.5:c.*924+60_*924+61insA ENSP00000436652.1:n.*924+60_*924+61insA
NM_001291902.1:c.575+60_575+61insA NP_001278831.1:n.575+60_575+61insA
NM_002335.3:c.2318+60_2318+61insA NP_002326.2:n.2318+60_2318+61insA
XM_005273994.2:c.2318+60_2318+61insA XP_005274051.1:n.2318+60_2318+61insA
XM_011545029.1:c.2345+60_2345+61insA XP_011543331.1:n.2345+60_2345+61insA
XM_011545030.1:c.2345+60_2345+61insA XP_011543332.1:n.2345+60_2345+61insA
XM_011545031.1:c.2345+60_2345+61insA XP_011543333.1:n.2345+60_2345+61insA
XR_949925.1:n.2360+60_2360+61insA
XR_949926.1:n.2360+60_2360+61insA
XM_017017735.1:c.575+60_575+61insA XP_016873224.1:n.575+60_575+61insA
XR_001747874.1:n.2360+60_2360+61insA
XR_949925.2:n.2360+60_2360+61insA
XR_949926.2:n.2360+60_2360+61insA
NM_002335.4:c.2318+60_2318+61insA MANE Select NP_002326.2:n.2318+60_2318+61insA
NM_001291902.2:c.575+60_575+61insA NP_001278831.1:n.575+60_575+61insA