Canonical Allele Identifier: CA2792540713

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410257_68410258insA , CM000673.2:g.68410257_68410258insA	GRCh38
NC_000011.9:g.68177725_68177726insA , CM000673.1:g.68177725_68177726insA	GRCh37
NC_000011.8:g.67934301_67934302insA	NCBI36
NG_015835.1:g.102618_102619insA
NG_015835.2:g.102618_102619insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2318+117_2318+118insA MANE Select	ENSP00000294304.6:n.2318+117_2318+118insA
ENST00000294304.11:c.2318+117_2318+118insA	ENSP00000294304.6:n.2318+117_2318+118insA
ENST00000528714.1:n.112+117_112+118insA
ENST00000529993.5:c.*924+117_*924+118insA	ENSP00000436652.1:n.*924+117_*924+118insA
NM_001291902.1:c.575+117_575+118insA	NP_001278831.1:n.575+117_575+118insA
NM_002335.3:c.2318+117_2318+118insA	NP_002326.2:n.2318+117_2318+118insA
XM_005273994.2:c.2318+117_2318+118insA	XP_005274051.1:n.2318+117_2318+118insA
XM_011545029.1:c.2345+117_2345+118insA	XP_011543331.1:n.2345+117_2345+118insA
XM_011545030.1:c.2345+117_2345+118insA	XP_011543332.1:n.2345+117_2345+118insA
XM_011545031.1:c.2345+117_2345+118insA	XP_011543333.1:n.2345+117_2345+118insA
XR_949925.1:n.2360+117_2360+118insA
XR_949926.1:n.2360+117_2360+118insA
XM_017017735.1:c.575+117_575+118insA	XP_016873224.1:n.575+117_575+118insA
XR_001747874.1:n.2360+117_2360+118insA
XR_949925.2:n.2360+117_2360+118insA
XR_949926.2:n.2360+117_2360+118insA
NM_002335.4:c.2318+117_2318+118insA MANE Select	NP_002326.2:n.2318+117_2318+118insA
NM_001291902.2:c.575+117_575+118insA	NP_001278831.1:n.575+117_575+118insA