Canonical Allele Identifier: CA1980595011
Gene: LRP5 HGNC NCBI

Linked Data

dbSNP Id: rs2098658746

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410320_68410321insAGG , CM000673.2:g.68410320_68410321insAGG GRCh38
NC_000011.9:g.68177788_68177789insAGG , CM000673.1:g.68177788_68177789insAGG GRCh37
NC_000011.8:g.67934364_67934365insAGG NCBI36
NG_015835.1:g.102681_102682insAGG
NG_015835.2:g.102681_102682insAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2318+180_2318+181insAGG MANE Select ENSP00000294304.6:n.2318+180_2318+181insAGG
ENST00000294304.11:c.2318+180_2318+181insAGG ENSP00000294304.6:n.2318+180_2318+181insAGG
ENST00000528714.1:n.112+180_112+181insAGG
ENST00000529993.5:c.*924+180_*924+181insAGG ENSP00000436652.1:n.*924+180_*924+181insAGG
NM_001291902.1:c.575+180_575+181insAGG NP_001278831.1:n.575+180_575+181insAGG
NM_002335.3:c.2318+180_2318+181insAGG NP_002326.2:n.2318+180_2318+181insAGG
XM_005273994.2:c.2318+180_2318+181insAGG XP_005274051.1:n.2318+180_2318+181insAGG
XM_011545029.1:c.2345+180_2345+181insAGG XP_011543331.1:n.2345+180_2345+181insAGG
XM_011545030.1:c.2345+180_2345+181insAGG XP_011543332.1:n.2345+180_2345+181insAGG
XM_011545031.1:c.2345+180_2345+181insAGG XP_011543333.1:n.2345+180_2345+181insAGG
XR_949925.1:n.2360+180_2360+181insAGG
XR_949926.1:n.2360+180_2360+181insAGG
XM_017017735.1:c.575+180_575+181insAGG XP_016873224.1:n.575+180_575+181insAGG
XR_001747874.1:n.2360+180_2360+181insAGG
XR_949925.2:n.2360+180_2360+181insAGG
XR_949926.2:n.2360+180_2360+181insAGG
NM_002335.4:c.2318+180_2318+181insAGG MANE Select NP_002326.2:n.2318+180_2318+181insAGG
NM_001291902.2:c.575+180_575+181insAGG NP_001278831.1:n.575+180_575+181insAGG