Canonical Allele Identifier: CA2792540651
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410220_68410221insCT , CM000673.2:g.68410220_68410221insCT GRCh38
NC_000011.9:g.68177688_68177689insCT , CM000673.1:g.68177688_68177689insCT GRCh37
NC_000011.8:g.67934264_67934265insCT NCBI36
NG_015835.1:g.102581_102582insCT
NG_015835.2:g.102581_102582insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2318+80_2318+81insCT MANE Select ENSP00000294304.6:n.2318+80_2318+81insCT
ENST00000294304.11:c.2318+80_2318+81insCT ENSP00000294304.6:n.2318+80_2318+81insCT
ENST00000528714.1:n.112+80_112+81insCT
ENST00000529993.5:c.*924+80_*924+81insCT ENSP00000436652.1:n.*924+80_*924+81insCT
NM_001291902.1:c.575+80_575+81insCT NP_001278831.1:n.575+80_575+81insCT
NM_002335.3:c.2318+80_2318+81insCT NP_002326.2:n.2318+80_2318+81insCT
XM_005273994.2:c.2318+80_2318+81insCT XP_005274051.1:n.2318+80_2318+81insCT
XM_011545029.1:c.2345+80_2345+81insCT XP_011543331.1:n.2345+80_2345+81insCT
XM_011545030.1:c.2345+80_2345+81insCT XP_011543332.1:n.2345+80_2345+81insCT
XM_011545031.1:c.2345+80_2345+81insCT XP_011543333.1:n.2345+80_2345+81insCT
XR_949925.1:n.2360+80_2360+81insCT
XR_949926.1:n.2360+80_2360+81insCT
XM_017017735.1:c.575+80_575+81insCT XP_016873224.1:n.575+80_575+81insCT
XR_001747874.1:n.2360+80_2360+81insCT
XR_949925.2:n.2360+80_2360+81insCT
XR_949926.2:n.2360+80_2360+81insCT
NM_002335.4:c.2318+80_2318+81insCT MANE Select NP_002326.2:n.2318+80_2318+81insCT
NM_001291902.2:c.575+80_575+81insCT NP_001278831.1:n.575+80_575+81insCT