Canonical Allele Identifier: CA2792540058
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68403744_68403745insA , CM000673.2:g.68403744_68403745insA GRCh38
NC_000011.9:g.68171212_68171213insA , CM000673.1:g.68171212_68171213insA GRCh37
NC_000011.8:g.67927788_67927789insA NCBI36
NG_015835.1:g.96105_96106insA
NG_015835.2:g.96105_96106insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1801+45_1801+46insA MANE Select ENSP00000294304.6:n.1801+45_1801+46insA
ENST00000294304.11:c.1801+45_1801+46insA ENSP00000294304.6:n.1801+45_1801+46insA
ENST00000529993.5:c.*213+45_*213+46insA ENSP00000436652.1:n.*213+45_*213+46insA
NM_001291902.1:c.-137+45_-137+46insA NP_001278831.1:n.-137+45_-137+46insA
NM_002335.3:c.1801+45_1801+46insA NP_002326.2:n.1801+45_1801+46insA
XM_005273994.2:c.1801+45_1801+46insA XP_005274051.1:n.1801+45_1801+46insA
XM_011545029.1:c.1828+45_1828+46insA XP_011543331.1:n.1828+45_1828+46insA
XM_011545030.1:c.1828+45_1828+46insA XP_011543332.1:n.1828+45_1828+46insA
XM_011545031.1:c.1828+45_1828+46insA XP_011543333.1:n.1828+45_1828+46insA
XR_949925.1:n.1843+45_1843+46insA
XR_949926.1:n.1843+45_1843+46insA
XR_001747874.1:n.1843+45_1843+46insA
XR_949925.2:n.1843+45_1843+46insA
XR_949926.2:n.1843+45_1843+46insA
NM_002335.4:c.1801+45_1801+46insA MANE Select NP_002326.2:n.1801+45_1801+46insA
NM_001291902.2:c.-137+45_-137+46insA NP_001278831.1:n.-137+45_-137+46insA