Canonical Allele Identifier: CA2976658506

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448826dup , CM000673.2:g.68448826dup	GRCh38
NC_000011.9:g.68216294dup , CM000673.1:g.68216294dup	GRCh37
NC_000011.8:g.67972870dup	NCBI36
NG_015835.1:g.141187dup
NG_015835.2:g.141187dup

Transcript Alleles

HGVS	Amino-acid Change
NM_002335.4:c.4604dup MANE Select	NP_002326.2:p.Met1536AsnfsTer14
ENST00000294304.12:c.4604dup MANE Select	ENSP00000294304.6:p.Met1536AsnfsTer14
NM_001291902.1:c.2861dup	NP_001278831.1:p.Met955AsnfsTer14
NM_001291902.2:c.2861dup	NP_001278831.1:p.Met955AsnfsTer14
NM_002335.3:c.4604dup	NP_002326.2:p.Met1536AsnfsTer14
ENST00000294304.11:c.4604dup	ENSP00000294304.6:p.Met1536AsnfsTer14
ENST00000529481.1:n.195dup
ENST00000529702.1:c.274dup
ENST00000529993.5:c.*3210dup	ENSP00000436652.1:n.*3210dup
XM_005273994.2:c.4718dup	XP_005274051.1:p.Met1574AsnfsTer14
XM_011545029.1:c.4745dup	XP_011543331.1:p.Met1583AsnfsTer14
XM_011545030.1:c.4631dup	XP_011543332.1:p.Met1545AsnfsTer14
XM_011545031.1:c.4761dup	XP_011543333.1:p.Asn1588GlufsTer?
XM_017017735.1:c.2975dup	XP_016873224.1:p.Met993AsnfsTer14
XM_017017736.1:c.2258dup	XP_016873225.1:p.Met754AsnfsTer14
XR_949925.1:n.4991dup
XR_949925.2:n.4991dup
XR_949926.1:n.5007dup
XR_949926.2:n.5007dup