Canonical Allele Identifier: CA1980666451

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448431_68448443delinsCTTTCGAAATGGG , CM000673.2:g.68448431_68448443delinsCTTTCGAAATGGG	GRCh38
NC_000011.9:g.68215899_68215911delinsCTTTCGAAATGGG , CM000673.1:g.68215899_68215911delinsCTTTCGAAATGGG	GRCh37
NC_000011.8:g.67972475_67972487delinsCTTTCGAAATGGG	NCBI36
NG_015835.1:g.140792_140804delinsCTTTCGAAATGGG
NG_015835.2:g.140792_140804delinsCTTTCGAAATGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.4587-378_4587-366delinsCTTTCGAAATGGG MANE Select	ENSP00000294304.6:n.4587-378_4587-366delinsCTTTCGAAATGGG
ENST00000294304.11:c.4587-378_4587-366delinsCTTTCGAAATGGG	ENSP00000294304.6:n.4587-378_4587-366delinsCTTTCGAAATGGG
ENST00000529481.1:n.178-378_178-366delinsCTTTCGAAATGGG
ENST00000529702.1:c.257-378_257-366delinsCTTTCGAAATGGG
ENST00000529993.5:c.*3193-378_*3193-366delinsCTTTCGAAATGGG	ENSP00000436652.1:n.*3193-378_*3193-366delinsCTTTCGAAATGGG
NM_001291902.1:c.2844-378_2844-366delinsCTTTCGAAATGGG	NP_001278831.1:n.2844-378_2844-366delinsCTTTCGAAATGGG
NM_002335.3:c.4587-378_4587-366delinsCTTTCGAAATGGG	NP_002326.2:n.4587-378_4587-366delinsCTTTCGAAATGGG
XM_005273994.2:c.4701-378_4701-366delinsCTTTCGAAATGGG	XP_005274051.1:n.4701-378_4701-366delinsCTTTCGAAATGGG
XM_011545029.1:c.4728-378_4728-366delinsCTTTCGAAATGGG	XP_011543331.1:n.4728-378_4728-366delinsCTTTCGAAATGGG
XM_011545030.1:c.4614-378_4614-366delinsCTTTCGAAATGGG	XP_011543332.1:n.4614-378_4614-366delinsCTTTCGAAATGGG
XM_011545031.1:c.4744-378_4744-366delinsCTTTCGAAATGGG	XP_011543333.1:n.4744-378_4744-366delinsCTTTCGAAATGGG
XR_949925.1:n.4974-378_4974-366delinsCTTTCGAAATGGG
XR_949926.1:n.4990-378_4990-366delinsCTTTCGAAATGGG
XM_017017735.1:c.2958-378_2958-366delinsCTTTCGAAATGGG	XP_016873224.1:n.2958-378_2958-366delinsCTTTCGAAATGGG
XM_017017736.1:c.2241-378_2241-366delinsCTTTCGAAATGGG	XP_016873225.1:n.2241-378_2241-366delinsCTTTCGAAATGGG
XR_949925.2:n.4974-378_4974-366delinsCTTTCGAAATGGG
XR_949926.2:n.4990-378_4990-366delinsCTTTCGAAATGGG
NM_002335.4:c.4587-378_4587-366delinsCTTTCGAAATGGG MANE Select	NP_002326.2:n.4587-378_4587-366delinsCTTTCGAAATGGG
NM_001291902.2:c.2844-378_2844-366delinsCTTTCGAAATGGG	NP_001278831.1:n.2844-378_2844-366delinsCTTTCGAAATGGG