Canonical Allele Identifier: CA2792540718
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410260_68410261insTC , CM000673.2:g.68410260_68410261insTC GRCh38
NC_000011.9:g.68177728_68177729insTC , CM000673.1:g.68177728_68177729insTC GRCh37
NC_000011.8:g.67934304_67934305insTC NCBI36
NG_015835.1:g.102621_102622insTC
NG_015835.2:g.102621_102622insTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2318+120_2318+121insTC MANE Select ENSP00000294304.6:n.2318+120_2318+121insTC
ENST00000294304.11:c.2318+120_2318+121insTC ENSP00000294304.6:n.2318+120_2318+121insTC
ENST00000528714.1:n.112+120_112+121insTC
ENST00000529993.5:c.*924+120_*924+121insTC ENSP00000436652.1:n.*924+120_*924+121insTC
NM_001291902.1:c.575+120_575+121insTC NP_001278831.1:n.575+120_575+121insTC
NM_002335.3:c.2318+120_2318+121insTC NP_002326.2:n.2318+120_2318+121insTC
XM_005273994.2:c.2318+120_2318+121insTC XP_005274051.1:n.2318+120_2318+121insTC
XM_011545029.1:c.2345+120_2345+121insTC XP_011543331.1:n.2345+120_2345+121insTC
XM_011545030.1:c.2345+120_2345+121insTC XP_011543332.1:n.2345+120_2345+121insTC
XM_011545031.1:c.2345+120_2345+121insTC XP_011543333.1:n.2345+120_2345+121insTC
XR_949925.1:n.2360+120_2360+121insTC
XR_949926.1:n.2360+120_2360+121insTC
XM_017017735.1:c.575+120_575+121insTC XP_016873224.1:n.575+120_575+121insTC
XR_001747874.1:n.2360+120_2360+121insTC
XR_949925.2:n.2360+120_2360+121insTC
XR_949926.2:n.2360+120_2360+121insTC
NM_002335.4:c.2318+120_2318+121insTC MANE Select NP_002326.2:n.2318+120_2318+121insTC
NM_001291902.2:c.575+120_575+121insTC NP_001278831.1:n.575+120_575+121insTC