Canonical Allele Identifier: CA2792540690
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410242_68410243insACAG , CM000673.2:g.68410242_68410243insACAG GRCh38
NC_000011.9:g.68177710_68177711insACAG , CM000673.1:g.68177710_68177711insACAG GRCh37
NC_000011.8:g.67934286_67934287insACAG NCBI36
NG_015835.1:g.102603_102604insACAG
NG_015835.2:g.102603_102604insACAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2318+102_2318+103insACAG MANE Select ENSP00000294304.6:n.2318+102_2318+103insACAG
ENST00000294304.11:c.2318+102_2318+103insACAG ENSP00000294304.6:n.2318+102_2318+103insACAG
ENST00000528714.1:n.112+102_112+103insACAG
ENST00000529993.5:c.*924+102_*924+103insACAG ENSP00000436652.1:n.*924+102_*924+103insACAG
NM_001291902.1:c.575+102_575+103insACAG NP_001278831.1:n.575+102_575+103insACAG
NM_002335.3:c.2318+102_2318+103insACAG NP_002326.2:n.2318+102_2318+103insACAG
XM_005273994.2:c.2318+102_2318+103insACAG XP_005274051.1:n.2318+102_2318+103insACAG
XM_011545029.1:c.2345+102_2345+103insACAG XP_011543331.1:n.2345+102_2345+103insACAG
XM_011545030.1:c.2345+102_2345+103insACAG XP_011543332.1:n.2345+102_2345+103insACAG
XM_011545031.1:c.2345+102_2345+103insACAG XP_011543333.1:n.2345+102_2345+103insACAG
XR_949925.1:n.2360+102_2360+103insACAG
XR_949926.1:n.2360+102_2360+103insACAG
XM_017017735.1:c.575+102_575+103insACAG XP_016873224.1:n.575+102_575+103insACAG
XR_001747874.1:n.2360+102_2360+103insACAG
XR_949925.2:n.2360+102_2360+103insACAG
XR_949926.2:n.2360+102_2360+103insACAG
NM_002335.4:c.2318+102_2318+103insACAG MANE Select NP_002326.2:n.2318+102_2318+103insACAG
NM_001291902.2:c.575+102_575+103insACAG NP_001278831.1:n.575+102_575+103insACAG