Canonical Allele Identifier: CA2842268923

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433719dup , CM000673.2:g.68433719dup	GRCh38
NC_000011.9:g.68201187dup , CM000673.1:g.68201187dup	GRCh37
NC_000011.8:g.67957763dup	NCBI36
NG_015835.1:g.126080dup
NG_015835.2:g.126080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.3881dup MANE Select	ENSP00000294304.6:p.Cys1295LeufsTer?
ENST00000294304.11:c.3881dup	ENSP00000294304.6:p.Cys1295LeufsTer?
ENST00000529993.5:c.*2487dup	ENSP00000436652.1:n.*2487dup
NM_001291902.1:c.2138dup	NP_001278831.1:p.Cys714LeufsTer?
NM_002335.3:c.3881dup	NP_002326.2:p.Cys1295LeufsTer?
XM_005273994.2:c.3881dup	XP_005274051.1:p.Cys1295LeufsTer?
XM_011545029.1:c.3908dup	XP_011543331.1:p.Cys1304LeufsTer?
XM_011545030.1:c.3908dup	XP_011543332.1:p.Cys1304LeufsTer?
XM_011545031.1:c.3908dup	XP_011543333.1:p.Cys1304LeufsTer?
XR_949925.1:n.3923dup
XR_949926.1:n.3923dup
XM_017017735.1:c.2138dup	XP_016873224.1:p.Cys714LeufsTer?
XM_017017736.1:c.1421dup	XP_016873225.1:p.Cys475LeufsTer?
XR_949925.2:n.3923dup
XR_949926.2:n.3923dup
NM_002335.4:c.3881dup MANE Select	NP_002326.2:p.Cys1295LeufsTer?
NM_001291902.2:c.2138dup	NP_001278831.1:p.Cys714LeufsTer?