Canonical Allele Identifier: CA2792540738
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410277_68410278insAGA , CM000673.2:g.68410277_68410278insAGA GRCh38
NC_000011.9:g.68177745_68177746insAGA , CM000673.1:g.68177745_68177746insAGA GRCh37
NC_000011.8:g.67934321_67934322insAGA NCBI36
NG_015835.1:g.102638_102639insAGA
NG_015835.2:g.102638_102639insAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2318+137_2318+138insAGA MANE Select ENSP00000294304.6:n.2318+137_2318+138insAGA
ENST00000294304.11:c.2318+137_2318+138insAGA ENSP00000294304.6:n.2318+137_2318+138insAGA
ENST00000528714.1:n.112+137_112+138insAGA
ENST00000529993.5:c.*924+137_*924+138insAGA ENSP00000436652.1:n.*924+137_*924+138insAGA
NM_001291902.1:c.575+137_575+138insAGA NP_001278831.1:n.575+137_575+138insAGA
NM_002335.3:c.2318+137_2318+138insAGA NP_002326.2:n.2318+137_2318+138insAGA
XM_005273994.2:c.2318+137_2318+138insAGA XP_005274051.1:n.2318+137_2318+138insAGA
XM_011545029.1:c.2345+137_2345+138insAGA XP_011543331.1:n.2345+137_2345+138insAGA
XM_011545030.1:c.2345+137_2345+138insAGA XP_011543332.1:n.2345+137_2345+138insAGA
XM_011545031.1:c.2345+137_2345+138insAGA XP_011543333.1:n.2345+137_2345+138insAGA
XR_949925.1:n.2360+137_2360+138insAGA
XR_949926.1:n.2360+137_2360+138insAGA
XM_017017735.1:c.575+137_575+138insAGA XP_016873224.1:n.575+137_575+138insAGA
XR_001747874.1:n.2360+137_2360+138insAGA
XR_949925.2:n.2360+137_2360+138insAGA
XR_949926.2:n.2360+137_2360+138insAGA
NM_002335.4:c.2318+137_2318+138insAGA MANE Select NP_002326.2:n.2318+137_2318+138insAGA
NM_001291902.2:c.575+137_575+138insAGA NP_001278831.1:n.575+137_575+138insAGA