Canonical Allele Identifier: CA2792540097
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68403799_68403802del , CM000673.2:g.68403799_68403802del GRCh38
NC_000011.9:g.68171267_68171270del , CM000673.1:g.68171267_68171270del GRCh37
NC_000011.8:g.67927843_67927846del NCBI36
NG_015835.1:g.96160_96163del
NG_015835.2:g.96160_96163del

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1801+100_1801+103del MANE Select ENSP00000294304.6:n.1801+100_1801+103del
ENST00000294304.11:c.1801+100_1801+103del ENSP00000294304.6:n.1801+100_1801+103del
ENST00000529993.5:c.*213+100_*213+103del ENSP00000436652.1:n.*213+100_*213+103del
NM_001291902.1:c.-137+100_-137+103del NP_001278831.1:n.-137+100_-137+103del
NM_002335.3:c.1801+100_1801+103del NP_002326.2:n.1801+100_1801+103del
XM_005273994.2:c.1801+100_1801+103del XP_005274051.1:n.1801+100_1801+103del
XM_011545029.1:c.1828+100_1828+103del XP_011543331.1:n.1828+100_1828+103del
XM_011545030.1:c.1828+100_1828+103del XP_011543332.1:n.1828+100_1828+103del
XM_011545031.1:c.1828+100_1828+103del XP_011543333.1:n.1828+100_1828+103del
XR_949925.1:n.1843+100_1843+103del
XR_949926.1:n.1843+100_1843+103del
XR_001747874.1:n.1843+100_1843+103del
XR_949925.2:n.1843+100_1843+103del
XR_949926.2:n.1843+100_1843+103del
NM_002335.4:c.1801+100_1801+103del MANE Select NP_002326.2:n.1801+100_1801+103del
NM_001291902.2:c.-137+100_-137+103del NP_001278831.1:n.-137+100_-137+103del