Canonical Allele Identifier: CA2792540691
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68410246_68410254del , CM000673.2:g.68410246_68410254del GRCh38
NC_000011.9:g.68177714_68177722del , CM000673.1:g.68177714_68177722del GRCh37
NC_000011.8:g.67934290_67934298del NCBI36
NG_015835.1:g.102607_102615del
NG_015835.2:g.102607_102615del

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2318+106_2318+114del MANE Select ENSP00000294304.6:n.2318+106_2318+114del
ENST00000294304.11:c.2318+106_2318+114del ENSP00000294304.6:n.2318+106_2318+114del
ENST00000528714.1:n.112+106_112+114del
ENST00000529993.5:c.*924+106_*924+114del ENSP00000436652.1:n.*924+106_*924+114del
NM_001291902.1:c.575+106_575+114del NP_001278831.1:n.575+106_575+114del
NM_002335.3:c.2318+106_2318+114del NP_002326.2:n.2318+106_2318+114del
XM_005273994.2:c.2318+106_2318+114del XP_005274051.1:n.2318+106_2318+114del
XM_011545029.1:c.2345+106_2345+114del XP_011543331.1:n.2345+106_2345+114del
XM_011545030.1:c.2345+106_2345+114del XP_011543332.1:n.2345+106_2345+114del
XM_011545031.1:c.2345+106_2345+114del XP_011543333.1:n.2345+106_2345+114del
XR_949925.1:n.2360+106_2360+114del
XR_949926.1:n.2360+106_2360+114del
XM_017017735.1:c.575+106_575+114del XP_016873224.1:n.575+106_575+114del
XR_001747874.1:n.2360+106_2360+114del
XR_949925.2:n.2360+106_2360+114del
XR_949926.2:n.2360+106_2360+114del
NM_002335.4:c.2318+106_2318+114del MANE Select NP_002326.2:n.2318+106_2318+114del
NM_001291902.2:c.575+106_575+114del NP_001278831.1:n.575+106_575+114del