Canonical Allele Identifier: CA2697548775

Gene: LRP5

Linked Data

• ClinVar Variation Id: 2707773
• ClinVar RCV Id: RCV003545028

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406592del , CM000673.2:g.68406592del	GRCh38
NC_000011.9:g.68174060del , CM000673.1:g.68174060del	GRCh37
NC_000011.8:g.67930636del	NCBI36
NG_015835.1:g.98953del
NG_015835.2:g.98953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1870del MANE Select	ENSP00000294304.6:p.Arg624GlyfsTer11
ENST00000294304.11:c.1870del	ENSP00000294304.6:p.Arg624GlyfsTer11
ENST00000529993.5:c.*476del	ENSP00000436652.1:n.*476del
NM_001291902.1:c.127del	NP_001278831.1:p.Arg43GlyfsTer11
NM_002335.3:c.1870del	NP_002326.2:p.Arg624GlyfsTer11
XM_005273994.2:c.1870del	XP_005274051.1:p.Arg624GlyfsTer11
XM_011545029.1:c.1897del	XP_011543331.1:p.Arg633GlyfsTer11
XM_011545030.1:c.1897del	XP_011543332.1:p.Arg633GlyfsTer11
XM_011545031.1:c.1897del	XP_011543333.1:p.Arg633GlyfsTer11
XR_949925.1:n.1912del
XR_949926.1:n.1912del
XM_017017735.1:c.127del	XP_016873224.1:p.Arg43GlyfsTer11
XR_001747874.1:n.1912del
XR_949925.2:n.1912del
XR_949926.2:n.1912del
NM_002335.4:c.1870del MANE Select	NP_002326.2:p.Arg624GlyfsTer11
NM_001291902.2:c.127del	NP_001278831.1:p.Arg43GlyfsTer11