Canonical Allele Identifier: CA679611156

Gene: LRP5

Linked Data

• dbSNP Id: rs1420794519
• gnomAD v3: 11-68347791-G-GCTGT
• gnomAD v4: 11-68347791-G-GCTGT
• MyVariant Identifiers: chr11:g.68115259_68115260insCTGT (hg19) ; chr11:g.68347791_68347792insCTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68347792_68347795dup , CM000673.2:g.68347792_68347795dup	GRCh38
NC_000011.9:g.68115260_68115263dup , CM000673.1:g.68115260_68115263dup	GRCh37
NC_000011.8:g.67871836_67871839dup	NCBI36
NG_015835.1:g.40153_40156dup
NG_015835.2:g.40153_40156dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.92-55_92-52dup MANE Select	ENSP00000294304.6:n.92-55_92-52dup
ENST00000294304.11:c.92-55_92-52dup	ENSP00000294304.6:n.92-55_92-52dup
ENST00000529993.5:c.92-55_92-52dup	ENSP00000436652.1:n.92-55_92-52dup
NM_001291902.1:c.-1674-55_-1674-52dup	NP_001278831.1:n.-1674-55_-1674-52dup
NM_002335.3:c.92-55_92-52dup	NP_002326.2:n.92-55_92-52dup
XM_005273994.2:c.92-55_92-52dup	XP_005274051.1:n.92-55_92-52dup
XM_011545029.1:c.119-55_119-52dup	XP_011543331.1:n.119-55_119-52dup
XM_011545030.1:c.119-55_119-52dup	XP_011543332.1:n.119-55_119-52dup
XM_011545031.1:c.119-55_119-52dup	XP_011543333.1:n.119-55_119-52dup
XR_949925.1:n.134-55_134-52dup
XR_949926.1:n.134-55_134-52dup
XR_001747874.1:n.134-55_134-52dup
XR_949925.2:n.134-55_134-52dup
XR_949926.2:n.134-55_134-52dup
NM_002335.4:c.92-55_92-52dup MANE Select	NP_002326.2:n.92-55_92-52dup
NM_001291902.2:c.-1674-55_-1674-52dup	NP_001278831.1:n.-1674-55_-1674-52dup