Canonical Allele Identifier: CA2792540119
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68403823_68403833del , CM000673.2:g.68403823_68403833del GRCh38
NC_000011.9:g.68171291_68171301del , CM000673.1:g.68171291_68171301del GRCh37
NC_000011.8:g.67927867_67927877del NCBI36
NG_015835.1:g.96184_96194del
NG_015835.2:g.96184_96194del

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1801+124_1801+134del MANE Select ENSP00000294304.6:n.1801+124_1801+134del
ENST00000294304.11:c.1801+124_1801+134del ENSP00000294304.6:n.1801+124_1801+134del
ENST00000529993.5:c.*213+124_*213+134del ENSP00000436652.1:n.*213+124_*213+134del
NM_001291902.1:c.-137+124_-137+134del NP_001278831.1:n.-137+124_-137+134del
NM_002335.3:c.1801+124_1801+134del NP_002326.2:n.1801+124_1801+134del
XM_005273994.2:c.1801+124_1801+134del XP_005274051.1:n.1801+124_1801+134del
XM_011545029.1:c.1828+124_1828+134del XP_011543331.1:n.1828+124_1828+134del
XM_011545030.1:c.1828+124_1828+134del XP_011543332.1:n.1828+124_1828+134del
XM_011545031.1:c.1828+124_1828+134del XP_011543333.1:n.1828+124_1828+134del
XR_949925.1:n.1843+124_1843+134del
XR_949926.1:n.1843+124_1843+134del
XR_001747874.1:n.1843+124_1843+134del
XR_949925.2:n.1843+124_1843+134del
XR_949926.2:n.1843+124_1843+134del
NM_002335.4:c.1801+124_1801+134del MANE Select NP_002326.2:n.1801+124_1801+134del
NM_001291902.2:c.-137+124_-137+134del NP_001278831.1:n.-137+124_-137+134del