Canonical Allele Identifier: CA2792540704
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410252_68410253insACAG , CM000673.2:g.68410252_68410253insACAG GRCh38
NC_000011.9:g.68177720_68177721insACAG , CM000673.1:g.68177720_68177721insACAG GRCh37
NC_000011.8:g.67934296_67934297insACAG NCBI36
NG_015835.1:g.102613_102614insACAG
NG_015835.2:g.102613_102614insACAG

Transcript Alleles

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