Canonical Allele Identifier: CA2792540708

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410253_68410254insACT , CM000673.2:g.68410253_68410254insACT	GRCh38
NC_000011.9:g.68177721_68177722insACT , CM000673.1:g.68177721_68177722insACT	GRCh37
NC_000011.8:g.67934297_67934298insACT	NCBI36
NG_015835.1:g.102614_102615insACT
NG_015835.2:g.102614_102615insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2318+113_2318+114insACT MANE Select	ENSP00000294304.6:n.2318+113_2318+114insACT
ENST00000294304.11:c.2318+113_2318+114insACT	ENSP00000294304.6:n.2318+113_2318+114insACT
ENST00000528714.1:n.112+113_112+114insACT
ENST00000529993.5:c.*924+113_*924+114insACT	ENSP00000436652.1:n.*924+113_*924+114insACT
NM_001291902.1:c.575+113_575+114insACT	NP_001278831.1:n.575+113_575+114insACT
NM_002335.3:c.2318+113_2318+114insACT	NP_002326.2:n.2318+113_2318+114insACT
XM_005273994.2:c.2318+113_2318+114insACT	XP_005274051.1:n.2318+113_2318+114insACT
XM_011545029.1:c.2345+113_2345+114insACT	XP_011543331.1:n.2345+113_2345+114insACT
XM_011545030.1:c.2345+113_2345+114insACT	XP_011543332.1:n.2345+113_2345+114insACT
XM_011545031.1:c.2345+113_2345+114insACT	XP_011543333.1:n.2345+113_2345+114insACT
XR_949925.1:n.2360+113_2360+114insACT
XR_949926.1:n.2360+113_2360+114insACT
XM_017017735.1:c.575+113_575+114insACT	XP_016873224.1:n.575+113_575+114insACT
XR_001747874.1:n.2360+113_2360+114insACT
XR_949925.2:n.2360+113_2360+114insACT
XR_949926.2:n.2360+113_2360+114insACT
NM_002335.4:c.2318+113_2318+114insACT MANE Select	NP_002326.2:n.2318+113_2318+114insACT
NM_001291902.2:c.575+113_575+114insACT	NP_001278831.1:n.575+113_575+114insACT