Canonical Allele Identifier: CA2792540629

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410209_68410212del , CM000673.2:g.68410209_68410212del	GRCh38
NC_000011.9:g.68177677_68177680del , CM000673.1:g.68177677_68177680del	GRCh37
NC_000011.8:g.67934253_67934256del	NCBI36
NG_015835.1:g.102570_102573del
NG_015835.2:g.102570_102573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2318+69_2318+72del MANE Select	ENSP00000294304.6:n.2318+69_2318+72del
ENST00000294304.11:c.2318+69_2318+72del	ENSP00000294304.6:n.2318+69_2318+72del
ENST00000528714.1:n.112+69_112+72del
ENST00000529993.5:c.*924+69_*924+72del	ENSP00000436652.1:n.*924+69_*924+72del
NM_001291902.1:c.575+69_575+72del	NP_001278831.1:n.575+69_575+72del
NM_002335.3:c.2318+69_2318+72del	NP_002326.2:n.2318+69_2318+72del
XM_005273994.2:c.2318+69_2318+72del	XP_005274051.1:n.2318+69_2318+72del
XM_011545029.1:c.2345+69_2345+72del	XP_011543331.1:n.2345+69_2345+72del
XM_011545030.1:c.2345+69_2345+72del	XP_011543332.1:n.2345+69_2345+72del
XM_011545031.1:c.2345+69_2345+72del	XP_011543333.1:n.2345+69_2345+72del
XR_949925.1:n.2360+69_2360+72del
XR_949926.1:n.2360+69_2360+72del
XM_017017735.1:c.575+69_575+72del	XP_016873224.1:n.575+69_575+72del
XR_001747874.1:n.2360+69_2360+72del
XR_949925.2:n.2360+69_2360+72del
XR_949926.2:n.2360+69_2360+72del
NM_002335.4:c.2318+69_2318+72del MANE Select	NP_002326.2:n.2318+69_2318+72del
NM_001291902.2:c.575+69_575+72del	NP_001278831.1:n.575+69_575+72del