Canonical Allele Identifier: CA2695214912
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68357672_68357677del , CM000673.2:g.68357672_68357677del GRCh38
NC_000011.9:g.68125140_68125145del , CM000673.1:g.68125140_68125145del GRCh37
NC_000011.8:g.67881716_67881721del NCBI36
NG_015835.1:g.50033_50038del
NG_015835.2:g.50033_50038del

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.511_516del MANE Select ENSP00000294304.6:p.Gly171_Glu172del
ENST00000294304.11:c.511_516del ENSP00000294304.6:p.Gly171_Glu172del
ENST00000529993.5:c.511_516del ENSP00000436652.1:p.Gly171_Glu172del
NM_001291902.1:c.-1255_-1250del NP_001278831.1:n.-1255_-1250del
NM_002335.3:c.511_516del NP_002326.2:p.Gly171_Glu172del
XM_005273994.2:c.511_516del XP_005274051.1:p.Gly171_Glu172del
XM_011545029.1:c.538_543del XP_011543331.1:p.Gly180_Glu181del
XM_011545030.1:c.538_543del XP_011543332.1:p.Gly180_Glu181del
XM_011545031.1:c.538_543del XP_011543333.1:p.Gly180_Glu181del
XR_949925.1:n.553_558del
XR_949926.1:n.553_558del
XR_001747874.1:n.553_558del
XR_949925.2:n.553_558del
XR_949926.2:n.553_558del
NM_002335.4:c.511_516del MANE Select NP_002326.2:p.Gly171_Glu172del
NM_001291902.2:c.-1255_-1250del NP_001278831.1:n.-1255_-1250del