Canonical Allele Identifier: CA2792540676
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410233_68410234insA , CM000673.2:g.68410233_68410234insA GRCh38
NC_000011.9:g.68177701_68177702insA , CM000673.1:g.68177701_68177702insA GRCh37
NC_000011.8:g.67934277_67934278insA NCBI36
NG_015835.1:g.102594_102595insA
NG_015835.2:g.102594_102595insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2318+93_2318+94insA MANE Select ENSP00000294304.6:n.2318+93_2318+94insA
ENST00000294304.11:c.2318+93_2318+94insA ENSP00000294304.6:n.2318+93_2318+94insA
ENST00000528714.1:n.112+93_112+94insA
ENST00000529993.5:c.*924+93_*924+94insA ENSP00000436652.1:n.*924+93_*924+94insA
NM_001291902.1:c.575+93_575+94insA NP_001278831.1:n.575+93_575+94insA
NM_002335.3:c.2318+93_2318+94insA NP_002326.2:n.2318+93_2318+94insA
XM_005273994.2:c.2318+93_2318+94insA XP_005274051.1:n.2318+93_2318+94insA
XM_011545029.1:c.2345+93_2345+94insA XP_011543331.1:n.2345+93_2345+94insA
XM_011545030.1:c.2345+93_2345+94insA XP_011543332.1:n.2345+93_2345+94insA
XM_011545031.1:c.2345+93_2345+94insA XP_011543333.1:n.2345+93_2345+94insA
XR_949925.1:n.2360+93_2360+94insA
XR_949926.1:n.2360+93_2360+94insA
XM_017017735.1:c.575+93_575+94insA XP_016873224.1:n.575+93_575+94insA
XR_001747874.1:n.2360+93_2360+94insA
XR_949925.2:n.2360+93_2360+94insA
XR_949926.2:n.2360+93_2360+94insA
NM_002335.4:c.2318+93_2318+94insA MANE Select NP_002326.2:n.2318+93_2318+94insA
NM_001291902.2:c.575+93_575+94insA NP_001278831.1:n.575+93_575+94insA