Canonical Allele Identifier: CA2792540647

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410218_68410219insA , CM000673.2:g.68410218_68410219insA	GRCh38
NC_000011.9:g.68177686_68177687insA , CM000673.1:g.68177686_68177687insA	GRCh37
NC_000011.8:g.67934262_67934263insA	NCBI36
NG_015835.1:g.102579_102580insA
NG_015835.2:g.102579_102580insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2318+78_2318+79insA MANE Select	ENSP00000294304.6:n.2318+78_2318+79insA
ENST00000294304.11:c.2318+78_2318+79insA	ENSP00000294304.6:n.2318+78_2318+79insA
ENST00000528714.1:n.112+78_112+79insA
ENST00000529993.5:c.*924+78_*924+79insA	ENSP00000436652.1:n.*924+78_*924+79insA
NM_001291902.1:c.575+78_575+79insA	NP_001278831.1:n.575+78_575+79insA
NM_002335.3:c.2318+78_2318+79insA	NP_002326.2:n.2318+78_2318+79insA
XM_005273994.2:c.2318+78_2318+79insA	XP_005274051.1:n.2318+78_2318+79insA
XM_011545029.1:c.2345+78_2345+79insA	XP_011543331.1:n.2345+78_2345+79insA
XM_011545030.1:c.2345+78_2345+79insA	XP_011543332.1:n.2345+78_2345+79insA
XM_011545031.1:c.2345+78_2345+79insA	XP_011543333.1:n.2345+78_2345+79insA
XR_949925.1:n.2360+78_2360+79insA
XR_949926.1:n.2360+78_2360+79insA
XM_017017735.1:c.575+78_575+79insA	XP_016873224.1:n.575+78_575+79insA
XR_001747874.1:n.2360+78_2360+79insA
XR_949925.2:n.2360+78_2360+79insA
XR_949926.2:n.2360+78_2360+79insA
NM_002335.4:c.2318+78_2318+79insA MANE Select	NP_002326.2:n.2318+78_2318+79insA
NM_001291902.2:c.575+78_575+79insA	NP_001278831.1:n.575+78_575+79insA