Canonical Allele Identifier: CA2792540128
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68403834_68403835insCAG , CM000673.2:g.68403834_68403835insCAG GRCh38
NC_000011.9:g.68171302_68171303insCAG , CM000673.1:g.68171302_68171303insCAG GRCh37
NC_000011.8:g.67927878_67927879insCAG NCBI36
NG_015835.1:g.96195_96196insCAG
NG_015835.2:g.96195_96196insCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1801+135_1801+136insCAG MANE Select ENSP00000294304.6:n.1801+135_1801+136insCAG
ENST00000294304.11:c.1801+135_1801+136insCAG ENSP00000294304.6:n.1801+135_1801+136insCAG
ENST00000529993.5:c.*213+135_*213+136insCAG ENSP00000436652.1:n.*213+135_*213+136insCAG
NM_001291902.1:c.-137+135_-137+136insCAG NP_001278831.1:n.-137+135_-137+136insCAG
NM_002335.3:c.1801+135_1801+136insCAG NP_002326.2:n.1801+135_1801+136insCAG
XM_005273994.2:c.1801+135_1801+136insCAG XP_005274051.1:n.1801+135_1801+136insCAG
XM_011545029.1:c.1828+135_1828+136insCAG XP_011543331.1:n.1828+135_1828+136insCAG
XM_011545030.1:c.1828+135_1828+136insCAG XP_011543332.1:n.1828+135_1828+136insCAG
XM_011545031.1:c.1828+135_1828+136insCAG XP_011543333.1:n.1828+135_1828+136insCAG
XR_949925.1:n.1843+135_1843+136insCAG
XR_949926.1:n.1843+135_1843+136insCAG
XR_001747874.1:n.1843+135_1843+136insCAG
XR_949925.2:n.1843+135_1843+136insCAG
XR_949926.2:n.1843+135_1843+136insCAG
NM_002335.4:c.1801+135_1801+136insCAG MANE Select NP_002326.2:n.1801+135_1801+136insCAG
NM_001291902.2:c.-137+135_-137+136insCAG NP_001278831.1:n.-137+135_-137+136insCAG