Canonical Allele Identifier: CA1980666479

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448458_68448475delinsCACTTTTATCAATGAGAA , CM000673.2:g.68448458_68448475delinsCACTTTTATCAATGAGAA	GRCh38
NC_000011.9:g.68215926_68215943delinsCACTTTTATCAATGAGAA , CM000673.1:g.68215926_68215943delinsCACTTTTATCAATGAGAA	GRCh37
NC_000011.8:g.67972502_67972519delinsCACTTTTATCAATGAGAA	NCBI36
NG_015835.1:g.140819_140836delinsCACTTTTATCAATGAGAA
NG_015835.2:g.140819_140836delinsCACTTTTATCAATGAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.4587-351_4587-334delinsCACTTTTATCAATGAGAA MANE Select	ENSP00000294304.6:n.4587-351_4587-334delinsCACTTTTATCAATGAGAA...
ENST00000294304.11:c.4587-351_4587-334delinsCACTTTTATCAATGAGAA	ENSP00000294304.6:n.4587-351_4587-334delinsCACTTTTATCAATGAGAA...
ENST00000529481.1:n.178-351_178-334delinsCACTTTTATCAATGAGAA
ENST00000529702.1:c.257-351_257-334delinsCACTTTTATCAATGAGAA
ENST00000529993.5:c.*3193-351_*3193-334delinsCACTTTTATCAATGAGAA	ENSP00000436652.1:n.*3193-351_*3193-334delinsCACTTTTATCAATGAG...
NM_001291902.1:c.2844-351_2844-334delinsCACTTTTATCAATGAGAA	NP_001278831.1:n.2844-351_2844-334delinsCACTTTTATCAATGAGAA
NM_002335.3:c.4587-351_4587-334delinsCACTTTTATCAATGAGAA	NP_002326.2:n.4587-351_4587-334delinsCACTTTTATCAATGAGAA
XM_005273994.2:c.4701-351_4701-334delinsCACTTTTATCAATGAGAA	XP_005274051.1:n.4701-351_4701-334delinsCACTTTTATCAATGAGAA
XM_011545029.1:c.4728-351_4728-334delinsCACTTTTATCAATGAGAA	XP_011543331.1:n.4728-351_4728-334delinsCACTTTTATCAATGAGAA
XM_011545030.1:c.4614-351_4614-334delinsCACTTTTATCAATGAGAA	XP_011543332.1:n.4614-351_4614-334delinsCACTTTTATCAATGAGAA
XM_011545031.1:c.4744-351_4744-334delinsCACTTTTATCAATGAGAA	XP_011543333.1:n.4744-351_4744-334delinsCACTTTTATCAATGAGAA
XR_949925.1:n.4974-351_4974-334delinsCACTTTTATCAATGAGAA
XR_949926.1:n.4990-351_4990-334delinsCACTTTTATCAATGAGAA
XM_017017735.1:c.2958-351_2958-334delinsCACTTTTATCAATGAGAA	XP_016873224.1:n.2958-351_2958-334delinsCACTTTTATCAATGAGAA
XM_017017736.1:c.2241-351_2241-334delinsCACTTTTATCAATGAGAA	XP_016873225.1:n.2241-351_2241-334delinsCACTTTTATCAATGAGAA
XR_949925.2:n.4974-351_4974-334delinsCACTTTTATCAATGAGAA
XR_949926.2:n.4990-351_4990-334delinsCACTTTTATCAATGAGAA
NM_002335.4:c.4587-351_4587-334delinsCACTTTTATCAATGAGAA MANE Select	NP_002326.2:n.4587-351_4587-334delinsCACTTTTATCAATGAGAA
NM_001291902.2:c.2844-351_2844-334delinsCACTTTTATCAATGAGAA	NP_001278831.1:n.2844-351_2844-334delinsCACTTTTATCAATGAGAA