Canonical Allele Identifier: CA2792540659
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410223_68410224insAT , CM000673.2:g.68410223_68410224insAT GRCh38
NC_000011.9:g.68177691_68177692insAT , CM000673.1:g.68177691_68177692insAT GRCh37
NC_000011.8:g.67934267_67934268insAT NCBI36
NG_015835.1:g.102584_102585insAT
NG_015835.2:g.102584_102585insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2318+83_2318+84insAT MANE Select ENSP00000294304.6:n.2318+83_2318+84insAT
ENST00000294304.11:c.2318+83_2318+84insAT ENSP00000294304.6:n.2318+83_2318+84insAT
ENST00000528714.1:n.112+83_112+84insAT
ENST00000529993.5:c.*924+83_*924+84insAT ENSP00000436652.1:n.*924+83_*924+84insAT
NM_001291902.1:c.575+83_575+84insAT NP_001278831.1:n.575+83_575+84insAT
NM_002335.3:c.2318+83_2318+84insAT NP_002326.2:n.2318+83_2318+84insAT
XM_005273994.2:c.2318+83_2318+84insAT XP_005274051.1:n.2318+83_2318+84insAT
XM_011545029.1:c.2345+83_2345+84insAT XP_011543331.1:n.2345+83_2345+84insAT
XM_011545030.1:c.2345+83_2345+84insAT XP_011543332.1:n.2345+83_2345+84insAT
XM_011545031.1:c.2345+83_2345+84insAT XP_011543333.1:n.2345+83_2345+84insAT
XR_949925.1:n.2360+83_2360+84insAT
XR_949926.1:n.2360+83_2360+84insAT
XM_017017735.1:c.575+83_575+84insAT XP_016873224.1:n.575+83_575+84insAT
XR_001747874.1:n.2360+83_2360+84insAT
XR_949925.2:n.2360+83_2360+84insAT
XR_949926.2:n.2360+83_2360+84insAT
NM_002335.4:c.2318+83_2318+84insAT MANE Select NP_002326.2:n.2318+83_2318+84insAT
NM_001291902.2:c.575+83_575+84insAT NP_001278831.1:n.575+83_575+84insAT