Canonical Allele Identifier: CA1980666481

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448461_68448477delinsTTTTATCAATGAGAAAC , CM000673.2:g.68448461_68448477delinsTTTTATCAATGAGAAAC	GRCh38
NC_000011.9:g.68215929_68215945delinsTTTTATCAATGAGAAAC , CM000673.1:g.68215929_68215945delinsTTTTATCAATGAGAAAC	GRCh37
NC_000011.8:g.67972505_67972521delinsTTTTATCAATGAGAAAC	NCBI36
NG_015835.1:g.140822_140838delinsTTTTATCAATGAGAAAC
NG_015835.2:g.140822_140838delinsTTTTATCAATGAGAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.4587-348_4587-332delinsTTTTATCAATGAGAAAC MANE Select	ENSP00000294304.6:n.4587-348_4587-332delinsTTTTATCAATGAGAAAC
ENST00000294304.11:c.4587-348_4587-332delinsTTTTATCAATGAGAAAC	ENSP00000294304.6:n.4587-348_4587-332delinsTTTTATCAATGAGAAAC
ENST00000529481.1:n.178-348_178-332delinsTTTTATCAATGAGAAAC
ENST00000529702.1:c.257-348_257-332delinsTTTTATCAATGAGAAAC
ENST00000529993.5:c.*3193-348_*3193-332delinsTTTTATCAATGAGAAAC	ENSP00000436652.1:n.*3193-348_*3193-332delinsTTTTATCAATGAGAAA...
NM_001291902.1:c.2844-348_2844-332delinsTTTTATCAATGAGAAAC	NP_001278831.1:n.2844-348_2844-332delinsTTTTATCAATGAGAAAC
NM_002335.3:c.4587-348_4587-332delinsTTTTATCAATGAGAAAC	NP_002326.2:n.4587-348_4587-332delinsTTTTATCAATGAGAAAC
XM_005273994.2:c.4701-348_4701-332delinsTTTTATCAATGAGAAAC	XP_005274051.1:n.4701-348_4701-332delinsTTTTATCAATGAGAAAC
XM_011545029.1:c.4728-348_4728-332delinsTTTTATCAATGAGAAAC	XP_011543331.1:n.4728-348_4728-332delinsTTTTATCAATGAGAAAC
XM_011545030.1:c.4614-348_4614-332delinsTTTTATCAATGAGAAAC	XP_011543332.1:n.4614-348_4614-332delinsTTTTATCAATGAGAAAC
XM_011545031.1:c.4744-348_4744-332delinsTTTTATCAATGAGAAAC	XP_011543333.1:n.4744-348_4744-332delinsTTTTATCAATGAGAAAC
XR_949925.1:n.4974-348_4974-332delinsTTTTATCAATGAGAAAC
XR_949926.1:n.4990-348_4990-332delinsTTTTATCAATGAGAAAC
XM_017017735.1:c.2958-348_2958-332delinsTTTTATCAATGAGAAAC	XP_016873224.1:n.2958-348_2958-332delinsTTTTATCAATGAGAAAC
XM_017017736.1:c.2241-348_2241-332delinsTTTTATCAATGAGAAAC	XP_016873225.1:n.2241-348_2241-332delinsTTTTATCAATGAGAAAC
XR_949925.2:n.4974-348_4974-332delinsTTTTATCAATGAGAAAC
XR_949926.2:n.4990-348_4990-332delinsTTTTATCAATGAGAAAC
NM_002335.4:c.4587-348_4587-332delinsTTTTATCAATGAGAAAC MANE Select	NP_002326.2:n.4587-348_4587-332delinsTTTTATCAATGAGAAAC
NM_001291902.2:c.2844-348_2844-332delinsTTTTATCAATGAGAAAC	NP_001278831.1:n.2844-348_2844-332delinsTTTTATCAATGAGAAAC