Canonical Allele Identifier: CA2792540706
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410253_68410254insAGA , CM000673.2:g.68410253_68410254insAGA GRCh38
NC_000011.9:g.68177721_68177722insAGA , CM000673.1:g.68177721_68177722insAGA GRCh37
NC_000011.8:g.67934297_67934298insAGA NCBI36
NG_015835.1:g.102614_102615insAGA
NG_015835.2:g.102614_102615insAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2318+113_2318+114insAGA MANE Select ENSP00000294304.6:n.2318+113_2318+114insAGA
ENST00000294304.11:c.2318+113_2318+114insAGA ENSP00000294304.6:n.2318+113_2318+114insAGA
ENST00000528714.1:n.112+113_112+114insAGA
ENST00000529993.5:c.*924+113_*924+114insAGA ENSP00000436652.1:n.*924+113_*924+114insAGA
NM_001291902.1:c.575+113_575+114insAGA NP_001278831.1:n.575+113_575+114insAGA
NM_002335.3:c.2318+113_2318+114insAGA NP_002326.2:n.2318+113_2318+114insAGA
XM_005273994.2:c.2318+113_2318+114insAGA XP_005274051.1:n.2318+113_2318+114insAGA
XM_011545029.1:c.2345+113_2345+114insAGA XP_011543331.1:n.2345+113_2345+114insAGA
XM_011545030.1:c.2345+113_2345+114insAGA XP_011543332.1:n.2345+113_2345+114insAGA
XM_011545031.1:c.2345+113_2345+114insAGA XP_011543333.1:n.2345+113_2345+114insAGA
XR_949925.1:n.2360+113_2360+114insAGA
XR_949926.1:n.2360+113_2360+114insAGA
XM_017017735.1:c.575+113_575+114insAGA XP_016873224.1:n.575+113_575+114insAGA
XR_001747874.1:n.2360+113_2360+114insAGA
XR_949925.2:n.2360+113_2360+114insAGA
XR_949926.2:n.2360+113_2360+114insAGA
NM_002335.4:c.2318+113_2318+114insAGA MANE Select NP_002326.2:n.2318+113_2318+114insAGA
NM_001291902.2:c.575+113_575+114insAGA NP_001278831.1:n.575+113_575+114insAGA