Canonical Allele Identifier: CA1980597774

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68413559_68413563delinsCCAAA , CM000673.2:g.68413559_68413563delinsCCAAA	GRCh38
NC_000011.9:g.68181027_68181031delinsCCAAA , CM000673.1:g.68181027_68181031delinsCCAAA	GRCh37
NC_000011.8:g.67937603_67937607delinsCCAAA	NCBI36
NG_015835.1:g.105920_105924delinsCCAAA
NG_015835.2:g.105920_105924delinsCCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2504-130_2504-126delinsCCAAA MANE Select	ENSP00000294304.6:n.2504-130_2504-126delinsCCAAA
ENST00000294304.11:c.2504-130_2504-126delinsCCAAA	ENSP00000294304.6:n.2504-130_2504-126delinsCCAAA
ENST00000529993.5:c.*1110-130_*1110-126delinsCCAAA	ENSP00000436652.1:n.*1110-130_*1110-126delinsCCAAA
NM_001291902.1:c.761-130_761-126delinsCCAAA	NP_001278831.1:n.761-130_761-126delinsCCAAA
NM_002335.3:c.2504-130_2504-126delinsCCAAA	NP_002326.2:n.2504-130_2504-126delinsCCAAA
XM_005273994.2:c.2504-130_2504-126delinsCCAAA	XP_005274051.1:n.2504-130_2504-126delinsCCAAA
XM_011545029.1:c.2531-130_2531-126delinsCCAAA	XP_011543331.1:n.2531-130_2531-126delinsCCAAA
XM_011545030.1:c.2531-130_2531-126delinsCCAAA	XP_011543332.1:n.2531-130_2531-126delinsCCAAA
XM_011545031.1:c.2531-130_2531-126delinsCCAAA	XP_011543333.1:n.2531-130_2531-126delinsCCAAA
XR_949925.1:n.2546-130_2546-126delinsCCAAA
XR_949926.1:n.2546-130_2546-126delinsCCAAA
XM_017017735.1:c.761-130_761-126delinsCCAAA	XP_016873224.1:n.761-130_761-126delinsCCAAA
XM_017017736.1:c.44-130_44-126delinsCCAAA	XP_016873225.1:n.44-130_44-126delinsCCAAA
XR_001747874.1:n.2770-130_2770-126delinsCCAAA
XR_949925.2:n.2546-130_2546-126delinsCCAAA
XR_949926.2:n.2546-130_2546-126delinsCCAAA
NM_002335.4:c.2504-130_2504-126delinsCCAAA MANE Select	NP_002326.2:n.2504-130_2504-126delinsCCAAA
NM_001291902.2:c.761-130_761-126delinsCCAAA	NP_001278831.1:n.761-130_761-126delinsCCAAA