Canonical Allele Identifier: CA2792540636
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410212_68410213insC , CM000673.2:g.68410212_68410213insC GRCh38
NC_000011.9:g.68177680_68177681insC , CM000673.1:g.68177680_68177681insC GRCh37
NC_000011.8:g.67934256_67934257insC NCBI36
NG_015835.1:g.102573_102574insC
NG_015835.2:g.102573_102574insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2318+72_2318+73insC MANE Select ENSP00000294304.6:n.2318+72_2318+73insC
ENST00000294304.11:c.2318+72_2318+73insC ENSP00000294304.6:n.2318+72_2318+73insC
ENST00000528714.1:n.112+72_112+73insC
ENST00000529993.5:c.*924+72_*924+73insC ENSP00000436652.1:n.*924+72_*924+73insC
NM_001291902.1:c.575+72_575+73insC NP_001278831.1:n.575+72_575+73insC
NM_002335.3:c.2318+72_2318+73insC NP_002326.2:n.2318+72_2318+73insC
XM_005273994.2:c.2318+72_2318+73insC XP_005274051.1:n.2318+72_2318+73insC
XM_011545029.1:c.2345+72_2345+73insC XP_011543331.1:n.2345+72_2345+73insC
XM_011545030.1:c.2345+72_2345+73insC XP_011543332.1:n.2345+72_2345+73insC
XM_011545031.1:c.2345+72_2345+73insC XP_011543333.1:n.2345+72_2345+73insC
XR_949925.1:n.2360+72_2360+73insC
XR_949926.1:n.2360+72_2360+73insC
XM_017017735.1:c.575+72_575+73insC XP_016873224.1:n.575+72_575+73insC
XR_001747874.1:n.2360+72_2360+73insC
XR_949925.2:n.2360+72_2360+73insC
XR_949926.2:n.2360+72_2360+73insC
NM_002335.4:c.2318+72_2318+73insC MANE Select NP_002326.2:n.2318+72_2318+73insC
NM_001291902.2:c.575+72_575+73insC NP_001278831.1:n.575+72_575+73insC