Canonical Allele Identifier: CA2792540641
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410215_68410216insACA , CM000673.2:g.68410215_68410216insACA GRCh38
NC_000011.9:g.68177683_68177684insACA , CM000673.1:g.68177683_68177684insACA GRCh37
NC_000011.8:g.67934259_67934260insACA NCBI36
NG_015835.1:g.102576_102577insACA
NG_015835.2:g.102576_102577insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2318+75_2318+76insACA MANE Select ENSP00000294304.6:n.2318+75_2318+76insACA
ENST00000294304.11:c.2318+75_2318+76insACA ENSP00000294304.6:n.2318+75_2318+76insACA
ENST00000528714.1:n.112+75_112+76insACA
ENST00000529993.5:c.*924+75_*924+76insACA ENSP00000436652.1:n.*924+75_*924+76insACA
NM_001291902.1:c.575+75_575+76insACA NP_001278831.1:n.575+75_575+76insACA
NM_002335.3:c.2318+75_2318+76insACA NP_002326.2:n.2318+75_2318+76insACA
XM_005273994.2:c.2318+75_2318+76insACA XP_005274051.1:n.2318+75_2318+76insACA
XM_011545029.1:c.2345+75_2345+76insACA XP_011543331.1:n.2345+75_2345+76insACA
XM_011545030.1:c.2345+75_2345+76insACA XP_011543332.1:n.2345+75_2345+76insACA
XM_011545031.1:c.2345+75_2345+76insACA XP_011543333.1:n.2345+75_2345+76insACA
XR_949925.1:n.2360+75_2360+76insACA
XR_949926.1:n.2360+75_2360+76insACA
XM_017017735.1:c.575+75_575+76insACA XP_016873224.1:n.575+75_575+76insACA
XR_001747874.1:n.2360+75_2360+76insACA
XR_949925.2:n.2360+75_2360+76insACA
XR_949926.2:n.2360+75_2360+76insACA
NM_002335.4:c.2318+75_2318+76insACA MANE Select NP_002326.2:n.2318+75_2318+76insACA
NM_001291902.2:c.575+75_575+76insACA NP_001278831.1:n.575+75_575+76insACA