Canonical Allele Identifier: CA2792540130
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68403839_68403938del , CM000673.2:g.68403839_68403938del GRCh38
NC_000011.9:g.68171307_68171406del , CM000673.1:g.68171307_68171406del GRCh37
NC_000011.8:g.67927883_67927982del NCBI36
NG_015835.1:g.96200_96299del
NG_015835.2:g.96200_96299del

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1801+140_1801+239del MANE Select ENSP00000294304.6:n.1801+140_1801+239del
ENST00000294304.11:c.1801+140_1801+239del ENSP00000294304.6:n.1801+140_1801+239del
ENST00000529993.5:c.*213+140_*213+239del ENSP00000436652.1:n.*213+140_*213+239del
NM_001291902.1:c.-137+140_-137+239del NP_001278831.1:n.-137+140_-137+239del
NM_002335.3:c.1801+140_1801+239del NP_002326.2:n.1801+140_1801+239del
XM_005273994.2:c.1801+140_1801+239del XP_005274051.1:n.1801+140_1801+239del
XM_011545029.1:c.1828+140_1828+239del XP_011543331.1:n.1828+140_1828+239del
XM_011545030.1:c.1828+140_1828+239del XP_011543332.1:n.1828+140_1828+239del
XM_011545031.1:c.1828+140_1828+239del XP_011543333.1:n.1828+140_1828+239del
XR_949925.1:n.1843+140_1843+239del
XR_949926.1:n.1843+140_1843+239del
XR_001747874.1:n.1843+140_1843+239del
XR_949925.2:n.1843+140_1843+239del
XR_949926.2:n.1843+140_1843+239del
NM_002335.4:c.1801+140_1801+239del MANE Select NP_002326.2:n.1801+140_1801+239del
NM_001291902.2:c.-137+140_-137+239del NP_001278831.1:n.-137+140_-137+239del