Canonical Allele Identifier: CA1980597777

Gene: LRP5

Linked Data

• dbSNP Id: rs2098660775
• gnomAD v3: 11-68413566-C-CT
• gnomAD v4: 11-68413566-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68413569dup , CM000673.2:g.68413569dup	GRCh38
NC_000011.9:g.68181037dup , CM000673.1:g.68181037dup	GRCh37
NC_000011.8:g.67937613dup	NCBI36
NG_015835.1:g.105930dup
NG_015835.2:g.105930dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2504-120dup MANE Select	ENSP00000294304.6:n.2504-120dup
ENST00000294304.11:c.2504-120dup	ENSP00000294304.6:n.2504-120dup
ENST00000529993.5:c.*1110-120dup	ENSP00000436652.1:n.*1110-120dup
NM_001291902.1:c.761-120dup	NP_001278831.1:n.761-120dup
NM_002335.3:c.2504-120dup	NP_002326.2:n.2504-120dup
XM_005273994.2:c.2504-120dup	XP_005274051.1:n.2504-120dup
XM_011545029.1:c.2531-120dup	XP_011543331.1:n.2531-120dup
XM_011545030.1:c.2531-120dup	XP_011543332.1:n.2531-120dup
XM_011545031.1:c.2531-120dup	XP_011543333.1:n.2531-120dup
XR_949925.1:n.2546-120dup
XR_949926.1:n.2546-120dup
XM_017017735.1:c.761-120dup	XP_016873224.1:n.761-120dup
XM_017017736.1:c.44-120dup	XP_016873225.1:n.44-120dup
XR_001747874.1:n.2770-120dup
XR_949925.2:n.2546-120dup
XR_949926.2:n.2546-120dup
NM_002335.4:c.2504-120dup MANE Select	NP_002326.2:n.2504-120dup
NM_001291902.2:c.761-120dup	NP_001278831.1:n.761-120dup