Canonical Allele Identifier: CA679604751

Gene: LRP5

Linked Data

• ClinVar Variation Id: 916148
• ClinVar RCV Id: RCV001171656
• dbSNP Id: rs1303970751
• MyVariant Identifiers: chr11:g.68174047_68174048insC (hg19) ; chr11:g.68406579_68406580insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406583dup , CM000673.2:g.68406583dup	GRCh38
NC_000011.9:g.68174051dup , CM000673.1:g.68174051dup	GRCh37
NC_000011.8:g.67930627dup	NCBI36
NG_015835.1:g.98944dup
NG_015835.2:g.98944dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1861dup MANE Select	ENSP00000294304.6:p.His621ProfsTer16
ENST00000294304.11:c.1861dup	ENSP00000294304.6:p.His621ProfsTer16
ENST00000529993.5:c.*467dup	ENSP00000436652.1:n.*467dup
NM_001291902.1:c.118dup	NP_001278831.1:p.His40ProfsTer16
NM_002335.3:c.1861dup	NP_002326.2:p.His621ProfsTer16
XM_005273994.2:c.1861dup	XP_005274051.1:p.His621ProfsTer16
XM_011545029.1:c.1888dup	XP_011543331.1:p.His630ProfsTer16
XM_011545030.1:c.1888dup	XP_011543332.1:p.His630ProfsTer16
XM_011545031.1:c.1888dup	XP_011543333.1:p.His630ProfsTer16
XR_949925.1:n.1903dup
XR_949926.1:n.1903dup
XM_017017735.1:c.118dup	XP_016873224.1:p.His40ProfsTer16
XR_001747874.1:n.1903dup
XR_949925.2:n.1903dup
XR_949926.2:n.1903dup
NM_002335.4:c.1861dup MANE Select	NP_002326.2:p.His621ProfsTer16
NM_001291902.2:c.118dup	NP_001278831.1:p.His40ProfsTer16