Canonical Allele Identifier: CA2792540098
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68403799_68403800insA , CM000673.2:g.68403799_68403800insA GRCh38
NC_000011.9:g.68171267_68171268insA , CM000673.1:g.68171267_68171268insA GRCh37
NC_000011.8:g.67927843_67927844insA NCBI36
NG_015835.1:g.96160_96161insA
NG_015835.2:g.96160_96161insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1801+100_1801+101insA MANE Select ENSP00000294304.6:n.1801+100_1801+101insA
ENST00000294304.11:c.1801+100_1801+101insA ENSP00000294304.6:n.1801+100_1801+101insA
ENST00000529993.5:c.*213+100_*213+101insA ENSP00000436652.1:n.*213+100_*213+101insA
NM_001291902.1:c.-137+100_-137+101insA NP_001278831.1:n.-137+100_-137+101insA
NM_002335.3:c.1801+100_1801+101insA NP_002326.2:n.1801+100_1801+101insA
XM_005273994.2:c.1801+100_1801+101insA XP_005274051.1:n.1801+100_1801+101insA
XM_011545029.1:c.1828+100_1828+101insA XP_011543331.1:n.1828+100_1828+101insA
XM_011545030.1:c.1828+100_1828+101insA XP_011543332.1:n.1828+100_1828+101insA
XM_011545031.1:c.1828+100_1828+101insA XP_011543333.1:n.1828+100_1828+101insA
XR_949925.1:n.1843+100_1843+101insA
XR_949926.1:n.1843+100_1843+101insA
XR_001747874.1:n.1843+100_1843+101insA
XR_949925.2:n.1843+100_1843+101insA
XR_949926.2:n.1843+100_1843+101insA
NM_002335.4:c.1801+100_1801+101insA MANE Select NP_002326.2:n.1801+100_1801+101insA
NM_001291902.2:c.-137+100_-137+101insA NP_001278831.1:n.-137+100_-137+101insA