Canonical Allele Identifier: CA2792540106
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68403806_68403819del , CM000673.2:g.68403806_68403819del GRCh38
NC_000011.9:g.68171274_68171287del , CM000673.1:g.68171274_68171287del GRCh37
NC_000011.8:g.67927850_67927863del NCBI36
NG_015835.1:g.96167_96180del
NG_015835.2:g.96167_96180del

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1801+107_1801+120del MANE Select ENSP00000294304.6:n.1801+107_1801+120del
ENST00000294304.11:c.1801+107_1801+120del ENSP00000294304.6:n.1801+107_1801+120del
ENST00000529993.5:c.*213+107_*213+120del ENSP00000436652.1:n.*213+107_*213+120del
NM_001291902.1:c.-137+107_-137+120del NP_001278831.1:n.-137+107_-137+120del
NM_002335.3:c.1801+107_1801+120del NP_002326.2:n.1801+107_1801+120del
XM_005273994.2:c.1801+107_1801+120del XP_005274051.1:n.1801+107_1801+120del
XM_011545029.1:c.1828+107_1828+120del XP_011543331.1:n.1828+107_1828+120del
XM_011545030.1:c.1828+107_1828+120del XP_011543332.1:n.1828+107_1828+120del
XM_011545031.1:c.1828+107_1828+120del XP_011543333.1:n.1828+107_1828+120del
XR_949925.1:n.1843+107_1843+120del
XR_949926.1:n.1843+107_1843+120del
XR_001747874.1:n.1843+107_1843+120del
XR_949925.2:n.1843+107_1843+120del
XR_949926.2:n.1843+107_1843+120del
NM_002335.4:c.1801+107_1801+120del MANE Select NP_002326.2:n.1801+107_1801+120del
NM_001291902.2:c.-137+107_-137+120del NP_001278831.1:n.-137+107_-137+120del