Canonical Allele Identifier: CA599952710

Gene: LRP5

Linked Data

• dbSNP Id: rs1221222357
• gnomAD v2: 11-68173858-A-AC
• gnomAD v3: 11-68406390-A-AC
• gnomAD v4: 11-68406390-A-AC
• MyVariant Identifiers: chr11:g.68173858_68173859insC (hg19) ; chr11:g.68406390_68406391insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406393dup , CM000673.2:g.68406393dup	GRCh38
NC_000011.9:g.68173861dup , CM000673.1:g.68173861dup	GRCh37
NC_000011.8:g.67930437dup	NCBI36
NG_015835.1:g.98754dup
NG_015835.2:g.98754dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1802-131dup MANE Select	ENSP00000294304.6:n.1802-131dup
ENST00000294304.11:c.1802-131dup	ENSP00000294304.6:n.1802-131dup
ENST00000528890.1:n.441-131dup
ENST00000529993.5:c.*408-131dup	ENSP00000436652.1:n.*408-131dup
NM_001291902.1:c.59-131dup	NP_001278831.1:n.59-131dup
NM_002335.3:c.1802-131dup	NP_002326.2:n.1802-131dup
XM_005273994.2:c.1802-131dup	XP_005274051.1:n.1802-131dup
XM_011545029.1:c.1829-131dup	XP_011543331.1:n.1829-131dup
XM_011545030.1:c.1829-131dup	XP_011543332.1:n.1829-131dup
XM_011545031.1:c.1829-131dup	XP_011543333.1:n.1829-131dup
XR_949925.1:n.1844-131dup
XR_949926.1:n.1844-131dup
XM_017017735.1:c.59-131dup	XP_016873224.1:n.59-131dup
XR_001747874.1:n.1844-131dup
XR_949925.2:n.1844-131dup
XR_949926.2:n.1844-131dup
NM_002335.4:c.1802-131dup MANE Select	NP_002326.2:n.1802-131dup
NM_001291902.2:c.59-131dup	NP_001278831.1:n.59-131dup