Canonical Allele Identifier: CA2792539253
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68386240_68386247del , CM000673.2:g.68386240_68386247del GRCh38
NC_000011.9:g.68153708_68153715del , CM000673.1:g.68153708_68153715del GRCh37
NC_000011.8:g.67910284_67910291del NCBI36
NG_015835.1:g.78601_78608del
NG_015835.2:g.78601_78608del

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1016-76_1016-69del MANE Select ENSP00000294304.6:n.1016-76_1016-69del
ENST00000294304.11:c.1016-76_1016-69del ENSP00000294304.6:n.1016-76_1016-69del
ENST00000529993.5:c.1016-76_1016-69del ENSP00000436652.1:n.1016-76_1016-69del
NM_001291902.1:c.-750-76_-750-69del NP_001278831.1:n.-750-76_-750-69del
NM_002335.3:c.1016-76_1016-69del NP_002326.2:n.1016-76_1016-69del
XM_005273994.2:c.1016-76_1016-69del XP_005274051.1:n.1016-76_1016-69del
XM_011545029.1:c.1043-76_1043-69del XP_011543331.1:n.1043-76_1043-69del
XM_011545030.1:c.1043-76_1043-69del XP_011543332.1:n.1043-76_1043-69del
XM_011545031.1:c.1043-76_1043-69del XP_011543333.1:n.1043-76_1043-69del
XR_949925.1:n.1058-76_1058-69del
XR_949926.1:n.1058-76_1058-69del
XR_001747874.1:n.1058-76_1058-69del
XR_949925.2:n.1058-76_1058-69del
XR_949926.2:n.1058-76_1058-69del
NM_002335.4:c.1016-76_1016-69del MANE Select NP_002326.2:n.1016-76_1016-69del
NM_001291902.2:c.-750-76_-750-69del NP_001278831.1:n.-750-76_-750-69del