Canonical Allele Identifier: CA2614718075

Gene: LRP5

Linked Data

• gnomAD v4: 11-68448833-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448838del , CM000673.2:g.68448838del	GRCh38
NC_000011.9:g.68216306del , CM000673.1:g.68216306del	GRCh37
NC_000011.8:g.67972882del	NCBI36
NG_015835.1:g.141199del
NG_015835.2:g.141199del

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.4616del MANE Select	ENSP00000294304.6:p.Pro1539ArgfsTer28
ENST00000294304.11:c.4616del	ENSP00000294304.6:p.Pro1539ArgfsTer28
ENST00000529481.1:n.207del
ENST00000529702.1:c.286del
ENST00000529993.5:c.*3222del	ENSP00000436652.1:n.*3222del
NM_001291902.1:c.2873del	NP_001278831.1:p.Pro958ArgfsTer28
NM_002335.3:c.4616del	NP_002326.2:p.Pro1539ArgfsTer28
XM_005273994.2:c.4730del	XP_005274051.1:p.Pro1577ArgfsTer28
XM_011545029.1:c.4757del	XP_011543331.1:p.Pro1586ArgfsTer28
XM_011545030.1:c.4643del	XP_011543332.1:p.Pro1548ArgfsTer28
XM_011545031.1:c.4773del	XP_011543333.1:p.Asp1592ThrfsTer?
XR_949925.1:n.5003del
XR_949926.1:n.5019del
XM_017017735.1:c.2987del	XP_016873224.1:p.Pro996ArgfsTer28
XM_017017736.1:c.2270del	XP_016873225.1:p.Pro757ArgfsTer28
XR_949925.2:n.5003del
XR_949926.2:n.5019del
NM_002335.4:c.4616del MANE Select	NP_002326.2:p.Pro1539ArgfsTer28
NM_001291902.2:c.2873del	NP_001278831.1:p.Pro958ArgfsTer28