Canonical Allele Identifier: CA2614714597

Gene: LRP5

Linked Data

• gnomAD v4: 11-68413746-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68413746_68413747insT , CM000673.2:g.68413746_68413747insT	GRCh38
NC_000011.9:g.68181214_68181215insT , CM000673.1:g.68181214_68181215insT	GRCh37
NC_000011.8:g.67937790_67937791insT	NCBI36
NG_015835.1:g.106107_106108insT
NG_015835.2:g.106107_106108insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.2561_2562insT MANE Select	ENSP00000294304.6:p.Ser855GlnfsTer15
ENST00000294304.11:c.2561_2562insT	ENSP00000294304.6:p.Ser855GlnfsTer15
ENST00000529993.5:c.*1167_*1168insT	ENSP00000436652.1:n.*1167_*1168insT
NM_001291902.1:c.818_819insT	NP_001278831.1:p.Ser274GlnfsTer15
NM_002335.3:c.2561_2562insT	NP_002326.2:p.Ser855GlnfsTer15
XM_005273994.2:c.2561_2562insT	XP_005274051.1:p.Ser855GlnfsTer15
XM_011545029.1:c.2588_2589insT	XP_011543331.1:p.Ser864GlnfsTer15
XM_011545030.1:c.2588_2589insT	XP_011543332.1:p.Ser864GlnfsTer15
XM_011545031.1:c.2588_2589insT	XP_011543333.1:p.Ser864GlnfsTer15
XR_949925.1:n.2603_2604insT
XR_949926.1:n.2603_2604insT
XM_017017735.1:c.818_819insT	XP_016873224.1:p.Ser274GlnfsTer15
XM_017017736.1:c.101_102insT	XP_016873225.1:p.Ser35GlnfsTer15
XR_001747874.1:n.2827_2828insT
XR_949925.2:n.2603_2604insT
XR_949926.2:n.2603_2604insT
NM_002335.4:c.2561_2562insT MANE Select	NP_002326.2:p.Ser855GlnfsTer15
NM_001291902.2:c.818_819insT	NP_001278831.1:p.Ser274GlnfsTer15