Canonical Allele Identifier: CA2792540096
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68403797_68403811del , CM000673.2:g.68403797_68403811del GRCh38
NC_000011.9:g.68171265_68171279del , CM000673.1:g.68171265_68171279del GRCh37
NC_000011.8:g.67927841_67927855del NCBI36
NG_015835.1:g.96158_96172del
NG_015835.2:g.96158_96172del

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1801+98_1801+112del MANE Select ENSP00000294304.6:n.1801+98_1801+112del
ENST00000294304.11:c.1801+98_1801+112del ENSP00000294304.6:n.1801+98_1801+112del
ENST00000529993.5:c.*213+98_*213+112del ENSP00000436652.1:n.*213+98_*213+112del
NM_001291902.1:c.-137+98_-137+112del NP_001278831.1:n.-137+98_-137+112del
NM_002335.3:c.1801+98_1801+112del NP_002326.2:n.1801+98_1801+112del
XM_005273994.2:c.1801+98_1801+112del XP_005274051.1:n.1801+98_1801+112del
XM_011545029.1:c.1828+98_1828+112del XP_011543331.1:n.1828+98_1828+112del
XM_011545030.1:c.1828+98_1828+112del XP_011543332.1:n.1828+98_1828+112del
XM_011545031.1:c.1828+98_1828+112del XP_011543333.1:n.1828+98_1828+112del
XR_949925.1:n.1843+98_1843+112del
XR_949926.1:n.1843+98_1843+112del
XR_001747874.1:n.1843+98_1843+112del
XR_949925.2:n.1843+98_1843+112del
XR_949926.2:n.1843+98_1843+112del
NM_002335.4:c.1801+98_1801+112del MANE Select NP_002326.2:n.1801+98_1801+112del
NM_001291902.2:c.-137+98_-137+112del NP_001278831.1:n.-137+98_-137+112del