Canonical Allele Identifier: CA1980654674

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406602_68406603delinsGC , CM000673.2:g.68406602_68406603delinsGC	GRCh38
NC_000011.9:g.68174070_68174071delinsGC , CM000673.1:g.68174070_68174071delinsGC	GRCh37
NC_000011.8:g.67930646_67930647delinsGC	NCBI36
NG_015835.1:g.98963_98964delinsGC
NG_015835.2:g.98963_98964delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1880_1881delinsGC MANE Select	ENSP00000294304.6:p.Cys627=
ENST00000294304.11:c.1880_1881delinsGC	ENSP00000294304.6:p.Cys627=
ENST00000529993.5:c.*486_*487delinsGC	ENSP00000436652.1:n.*486_*487delinsGC
NM_001291902.1:c.137_138delinsGC	NP_001278831.1:p.Cys46=
NM_002335.3:c.1880_1881delinsGC	NP_002326.2:p.Cys627=
XM_005273994.2:c.1880_1881delinsGC	XP_005274051.1:p.Cys627=
XM_011545029.1:c.1907_1908delinsGC	XP_011543331.1:p.Cys636=
XM_011545030.1:c.1907_1908delinsGC	XP_011543332.1:p.Cys636=
XM_011545031.1:c.1907_1908delinsGC	XP_011543333.1:p.Cys636=
XR_949925.1:n.1922_1923delinsGC
XR_949926.1:n.1922_1923delinsGC
XM_017017735.1:c.137_138delinsGC	XP_016873224.1:p.Cys46=
XR_001747874.1:n.1922_1923delinsGC
XR_949925.2:n.1922_1923delinsGC
XR_949926.2:n.1922_1923delinsGC
NM_002335.4:c.1880_1881delinsGC MANE Select	NP_002326.2:p.Cys627=
NM_001291902.2:c.137_138delinsGC	NP_001278831.1:p.Cys46=