Canonical Allele Identifier: CA1980639601

Gene: LRP5

Linked Data

• dbSNP Id: rs2098624169
• gnomAD v3: 11-68357592-GACAAAA-G
• gnomAD v4: 11-68357592-GACAAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68357600_68357605del , CM000673.2:g.68357600_68357605del	GRCh38
NC_000011.9:g.68125068_68125073del , CM000673.1:g.68125068_68125073del	GRCh37
NC_000011.8:g.67881644_67881649del	NCBI36
NG_015835.1:g.49961_49966del
NG_015835.2:g.49961_49966del

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.489-50_489-45del MANE Select	ENSP00000294304.6:n.489-50_489-45del
ENST00000294304.11:c.489-50_489-45del	ENSP00000294304.6:n.489-50_489-45del
ENST00000529993.5:c.489-50_489-45del	ENSP00000436652.1:n.489-50_489-45del
NM_001291902.1:c.-1277-50_-1277-45del	NP_001278831.1:n.-1277-50_-1277-45del
NM_002335.3:c.489-50_489-45del	NP_002326.2:n.489-50_489-45del
XM_005273994.2:c.489-50_489-45del	XP_005274051.1:n.489-50_489-45del
XM_011545029.1:c.516-50_516-45del	XP_011543331.1:n.516-50_516-45del
XM_011545030.1:c.516-50_516-45del	XP_011543332.1:n.516-50_516-45del
XM_011545031.1:c.516-50_516-45del	XP_011543333.1:n.516-50_516-45del
XR_949925.1:n.531-50_531-45del
XR_949926.1:n.531-50_531-45del
XR_001747874.1:n.531-50_531-45del
XR_949925.2:n.531-50_531-45del
XR_949926.2:n.531-50_531-45del
NM_002335.4:c.489-50_489-45del MANE Select	NP_002326.2:n.489-50_489-45del
NM_001291902.2:c.-1277-50_-1277-45del	NP_001278831.1:n.-1277-50_-1277-45del