Canonical Allele Identifier: CA2614714591

Gene: LRP5

Linked Data

• gnomAD v4: 11-68413726-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68413726_68413727insT , CM000673.2:g.68413726_68413727insT	GRCh38
NC_000011.9:g.68181194_68181195insT , CM000673.1:g.68181194_68181195insT	GRCh37
NC_000011.8:g.67937770_67937771insT	NCBI36
NG_015835.1:g.106087_106088insT
NG_015835.2:g.106087_106088insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2541_2542insT MANE Select	ENSP00000294304.6:p.Pro848SerfsTer22
ENST00000294304.11:c.2541_2542insT	ENSP00000294304.6:p.Pro848SerfsTer22
ENST00000529993.5:c.*1147_*1148insT	ENSP00000436652.1:n.*1147_*1148insT
NM_001291902.1:c.798_799insT	NP_001278831.1:p.Pro267SerfsTer22
NM_002335.3:c.2541_2542insT	NP_002326.2:p.Pro848SerfsTer22
XM_005273994.2:c.2541_2542insT	XP_005274051.1:p.Pro848SerfsTer22
XM_011545029.1:c.2568_2569insT	XP_011543331.1:p.Pro857SerfsTer22
XM_011545030.1:c.2568_2569insT	XP_011543332.1:p.Pro857SerfsTer22
XM_011545031.1:c.2568_2569insT	XP_011543333.1:p.Pro857SerfsTer22
XR_949925.1:n.2583_2584insT
XR_949926.1:n.2583_2584insT
XM_017017735.1:c.798_799insT	XP_016873224.1:p.Pro267SerfsTer22
XM_017017736.1:c.81_82insT	XP_016873225.1:p.Pro28SerfsTer22
XR_001747874.1:n.2807_2808insT
XR_949925.2:n.2583_2584insT
XR_949926.2:n.2583_2584insT
NM_002335.4:c.2541_2542insT MANE Select	NP_002326.2:p.Pro848SerfsTer22
NM_001291902.2:c.798_799insT	NP_001278831.1:p.Pro267SerfsTer22