Canonical Allele Identifier: CA2695214911
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68357670_68357675dup , CM000673.2:g.68357670_68357675dup GRCh38
NC_000011.9:g.68125138_68125143dup , CM000673.1:g.68125138_68125143dup GRCh37
NC_000011.8:g.67881714_67881719dup NCBI36
NG_015835.1:g.50031_50036dup
NG_015835.2:g.50031_50036dup

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.509_514dup MANE Select ENSP00000294304.6:p.Gly171_Glu172insGlyGl...
ENST00000294304.11:c.509_514dup ENSP00000294304.6:p.Gly171_Glu172insGlyGl...
ENST00000529993.5:c.509_514dup ENSP00000436652.1:p.Gly171_Glu172insGlyGl...
NM_001291902.1:c.-1257_-1252dup NP_001278831.1:n.-1257_-1252dup
NM_002335.3:c.509_514dup NP_002326.2:p.Gly171_Glu172insGlyGly
XM_005273994.2:c.509_514dup XP_005274051.1:p.Gly171_Glu172insGlyGly
XM_011545029.1:c.536_541dup XP_011543331.1:p.Gly180_Glu181insGlyGly
XM_011545030.1:c.536_541dup XP_011543332.1:p.Gly180_Glu181insGlyGly
XM_011545031.1:c.536_541dup XP_011543333.1:p.Gly180_Glu181insGlyGly
XR_949925.1:n.551_556dup
XR_949926.1:n.551_556dup
XR_001747874.1:n.551_556dup
XR_949925.2:n.551_556dup
XR_949926.2:n.551_556dup
NM_002335.4:c.509_514dup MANE Select NP_002326.2:p.Gly171_Glu172insGlyGly
NM_001291902.2:c.-1257_-1252dup NP_001278831.1:n.-1257_-1252dup