Canonical Allele Identifier: CA224250766

Gene: LRP5

Linked Data

• ClinVar Variation Id: 6273
• ClinVar RCV Id: RCV000006651
• dbSNP Id: rs80358319
• MyVariant Identifiers: chr11:g.68201110del (hg19) ; chr11:g.68433642del (hg38)
• PubMed: PMID:11719191

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433642del , CM000673.2:g.68433642del	GRCh38
NC_000011.9:g.68201110del , CM000673.1:g.68201110del	GRCh37
NC_000011.8:g.67957686del	NCBI36
NG_015835.1:g.126003del
NG_015835.2:g.126003del

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.3804del MANE Select	ENSP00000294304.6:p.Glu1270ArgfsTer?
ENST00000294304.11:c.3804del	ENSP00000294304.6:p.Glu1270ArgfsTer?
ENST00000529993.5:c.*2410del	ENSP00000436652.1:n.*2410del
NM_001291902.1:c.2061del	NP_001278831.1:p.Glu689ArgfsTer?
NM_002335.3:c.3804del	NP_002326.2:p.Glu1270ArgfsTer?
XM_005273994.2:c.3804del	XP_005274051.1:p.Glu1270ArgfsTer?
XM_011545029.1:c.3831del	XP_011543331.1:p.Glu1279ArgfsTer?
XM_011545030.1:c.3831del	XP_011543332.1:p.Glu1279ArgfsTer?
XM_011545031.1:c.3831del	XP_011543333.1:p.Glu1279ArgfsTer?
XR_949925.1:n.3846del
XR_949926.1:n.3846del
XM_017017735.1:c.2061del	XP_016873224.1:p.Glu689ArgfsTer?
XM_017017736.1:c.1344del	XP_016873225.1:p.Glu450ArgfsTer?
XR_949925.2:n.3846del
XR_949926.2:n.3846del
NM_002335.4:c.3804del MANE Select	NP_002326.2:p.Glu1270ArgfsTer?
NM_001291902.2:c.2061del	NP_001278831.1:p.Glu689ArgfsTer?