Canonical Allele Identifier: CA2695214838
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68347863dup , CM000673.2:g.68347863dup GRCh38
NC_000011.9:g.68115331dup , CM000673.1:g.68115331dup GRCh37
NC_000011.8:g.67871907dup NCBI36
NG_015835.1:g.40224dup
NG_015835.2:g.40224dup

Transcript Alleles

HGVS Amino-acid change
ENST00000294304.12:c.108dup MANE Select ENSP00000294304.6:p.Phe37IlefsTer?
ENST00000294304.11:c.108dup ENSP00000294304.6:p.Phe37IlefsTer?
ENST00000529993.5:c.108dup ENSP00000436652.1:p.Phe37IlefsTer?
NM_001291902.1:c.-1658dup NP_001278831.1:n.-1658dup
NM_002335.3:c.108dup NP_002326.2:p.Phe37IlefsTer?
XM_005273994.2:c.108dup XP_005274051.1:p.Phe37IlefsTer?
XM_011545029.1:c.135dup XP_011543331.1:p.Phe46IlefsTer?
XM_011545030.1:c.135dup XP_011543332.1:p.Phe46IlefsTer?
XM_011545031.1:c.135dup XP_011543333.1:p.Phe46IlefsTer?
XR_949925.1:n.150dup
XR_949926.1:n.150dup
XR_001747874.1:n.150dup
XR_949925.2:n.150dup
XR_949926.2:n.150dup
NM_002335.4:c.108dup MANE Select NP_002326.2:p.Phe37IlefsTer?
NM_001291902.2:c.-1658dup NP_001278831.1:n.-1658dup