Canonical Allele Identifier: CA2614713472

Gene: LRP5

Linked Data

• gnomAD v4: 11-68410219-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410220_68410221del , CM000673.2:g.68410220_68410221del	GRCh38
NC_000011.9:g.68177688_68177689del , CM000673.1:g.68177688_68177689del	GRCh37
NC_000011.8:g.67934264_67934265del	NCBI36
NG_015835.1:g.102581_102582del
NG_015835.2:g.102581_102582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2318+80_2318+81del MANE Select	ENSP00000294304.6:n.2318+80_2318+81del
ENST00000294304.11:c.2318+80_2318+81del	ENSP00000294304.6:n.2318+80_2318+81del
ENST00000528714.1:n.112+80_112+81del
ENST00000529993.5:c.*924+80_*924+81del	ENSP00000436652.1:n.*924+80_*924+81del
NM_001291902.1:c.575+80_575+81del	NP_001278831.1:n.575+80_575+81del
NM_002335.3:c.2318+80_2318+81del	NP_002326.2:n.2318+80_2318+81del
XM_005273994.2:c.2318+80_2318+81del	XP_005274051.1:n.2318+80_2318+81del
XM_011545029.1:c.2345+80_2345+81del	XP_011543331.1:n.2345+80_2345+81del
XM_011545030.1:c.2345+80_2345+81del	XP_011543332.1:n.2345+80_2345+81del
XM_011545031.1:c.2345+80_2345+81del	XP_011543333.1:n.2345+80_2345+81del
XR_949925.1:n.2360+80_2360+81del
XR_949926.1:n.2360+80_2360+81del
XM_017017735.1:c.575+80_575+81del	XP_016873224.1:n.575+80_575+81del
XR_001747874.1:n.2360+80_2360+81del
XR_949925.2:n.2360+80_2360+81del
XR_949926.2:n.2360+80_2360+81del
NM_002335.4:c.2318+80_2318+81del MANE Select	NP_002326.2:n.2318+80_2318+81del
NM_001291902.2:c.575+80_575+81del	NP_001278831.1:n.575+80_575+81del