Canonical Allele Identifier: CA1980594997

Gene: LRP5

Linked Data

• dbSNP Id: rs2098658737

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410312_68410315del , CM000673.2:g.68410312_68410315del	GRCh38
NC_000011.9:g.68177780_68177783del , CM000673.1:g.68177780_68177783del	GRCh37
NC_000011.8:g.67934356_67934359del	NCBI36
NG_015835.1:g.102673_102676del
NG_015835.2:g.102673_102676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2318+172_2318+175del MANE Select	ENSP00000294304.6:n.2318+172_2318+175del
ENST00000294304.11:c.2318+172_2318+175del	ENSP00000294304.6:n.2318+172_2318+175del
ENST00000528714.1:n.112+172_112+175del
ENST00000529993.5:c.*924+172_*924+175del	ENSP00000436652.1:n.*924+172_*924+175del
NM_001291902.1:c.575+172_575+175del	NP_001278831.1:n.575+172_575+175del
NM_002335.3:c.2318+172_2318+175del	NP_002326.2:n.2318+172_2318+175del
XM_005273994.2:c.2318+172_2318+175del	XP_005274051.1:n.2318+172_2318+175del
XM_011545029.1:c.2345+172_2345+175del	XP_011543331.1:n.2345+172_2345+175del
XM_011545030.1:c.2345+172_2345+175del	XP_011543332.1:n.2345+172_2345+175del
XM_011545031.1:c.2345+172_2345+175del	XP_011543333.1:n.2345+172_2345+175del
XR_949925.1:n.2360+172_2360+175del
XR_949926.1:n.2360+172_2360+175del
XM_017017735.1:c.575+172_575+175del	XP_016873224.1:n.575+172_575+175del
XR_001747874.1:n.2360+172_2360+175del
XR_949925.2:n.2360+172_2360+175del
XR_949926.2:n.2360+172_2360+175del
NM_002335.4:c.2318+172_2318+175del MANE Select	NP_002326.2:n.2318+172_2318+175del
NM_001291902.2:c.575+172_575+175del	NP_001278831.1:n.575+172_575+175del