Canonical Allele Identifier: CA1980639671
Gene: LRP5 HGNC NCBI

Linked Data

dbSNP Id: rs2098624260

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68357676dup , CM000673.2:g.68357676dup GRCh38
NC_000011.9:g.68125144dup , CM000673.1:g.68125144dup GRCh37
NC_000011.8:g.67881720dup NCBI36
NG_015835.1:g.50037dup
NG_015835.2:g.50037dup

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.515dup MANE Select ENSP00000294304.6:p.Thr173AspfsTer5
ENST00000294304.11:c.515dup ENSP00000294304.6:p.Thr173AspfsTer5
ENST00000529993.5:c.515dup ENSP00000436652.1:p.Thr173AspfsTer5
NM_001291902.1:c.-1251dup NP_001278831.1:n.-1251dup
NM_002335.3:c.515dup NP_002326.2:p.Thr173AspfsTer5
XM_005273994.2:c.515dup XP_005274051.1:p.Thr173AspfsTer5
XM_011545029.1:c.542dup XP_011543331.1:p.Thr182AspfsTer5
XM_011545030.1:c.542dup XP_011543332.1:p.Thr182AspfsTer5
XM_011545031.1:c.542dup XP_011543333.1:p.Thr182AspfsTer5
XR_949925.1:n.557dup
XR_949926.1:n.557dup
XR_001747874.1:n.557dup
XR_949925.2:n.557dup
XR_949926.2:n.557dup
NM_002335.4:c.515dup MANE Select NP_002326.2:p.Thr173AspfsTer5
NM_001291902.2:c.-1251dup NP_001278831.1:n.-1251dup