Canonical Allele Identifier: CA2792541098
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68413486_68413634del , CM000673.2:g.68413486_68413634del GRCh38
NC_000011.9:g.68180954_68181102del , CM000673.1:g.68180954_68181102del GRCh37
NC_000011.8:g.67937530_67937678del NCBI36
NG_015835.1:g.105847_105995del
NG_015835.2:g.105847_105995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.2504-203_2504-55del MANE Select ENSP00000294304.6:n.2504-203_2504-55del
ENST00000294304.11:c.2504-203_2504-55del ENSP00000294304.6:n.2504-203_2504-55del
ENST00000529993.5:c.*1110-203_*1110-55del ENSP00000436652.1:n.*1110-203_*1110-55del
NM_001291902.1:c.761-203_761-55del NP_001278831.1:n.761-203_761-55del
NM_002335.3:c.2504-203_2504-55del NP_002326.2:n.2504-203_2504-55del
XM_005273994.2:c.2504-203_2504-55del XP_005274051.1:n.2504-203_2504-55del
XM_011545029.1:c.2531-203_2531-55del XP_011543331.1:n.2531-203_2531-55del
XM_011545030.1:c.2531-203_2531-55del XP_011543332.1:n.2531-203_2531-55del
XM_011545031.1:c.2531-203_2531-55del XP_011543333.1:n.2531-203_2531-55del
XR_949925.1:n.2546-203_2546-55del
XR_949926.1:n.2546-203_2546-55del
XM_017017735.1:c.761-203_761-55del XP_016873224.1:n.761-203_761-55del
XM_017017736.1:c.43+183_44-55del XP_016873225.1:n.43+183_44-55del
XR_001747874.1:n.2769+183_2770-55del
XR_949925.2:n.2546-203_2546-55del
XR_949926.2:n.2546-203_2546-55del
NM_002335.4:c.2504-203_2504-55del MANE Select NP_002326.2:n.2504-203_2504-55del
NM_001291902.2:c.761-203_761-55del NP_001278831.1:n.761-203_761-55del