Canonical Allele Identifier: CA2792540665

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410225_68410226insAGT , CM000673.2:g.68410225_68410226insAGT	GRCh38
NC_000011.9:g.68177693_68177694insAGT , CM000673.1:g.68177693_68177694insAGT	GRCh37
NC_000011.8:g.67934269_67934270insAGT	NCBI36
NG_015835.1:g.102586_102587insAGT
NG_015835.2:g.102586_102587insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2318+85_2318+86insAGT MANE Select	ENSP00000294304.6:n.2318+85_2318+86insAGT
ENST00000294304.11:c.2318+85_2318+86insAGT	ENSP00000294304.6:n.2318+85_2318+86insAGT
ENST00000528714.1:n.112+85_112+86insAGT
ENST00000529993.5:c.*924+85_*924+86insAGT	ENSP00000436652.1:n.*924+85_*924+86insAGT
NM_001291902.1:c.575+85_575+86insAGT	NP_001278831.1:n.575+85_575+86insAGT
NM_002335.3:c.2318+85_2318+86insAGT	NP_002326.2:n.2318+85_2318+86insAGT
XM_005273994.2:c.2318+85_2318+86insAGT	XP_005274051.1:n.2318+85_2318+86insAGT
XM_011545029.1:c.2345+85_2345+86insAGT	XP_011543331.1:n.2345+85_2345+86insAGT
XM_011545030.1:c.2345+85_2345+86insAGT	XP_011543332.1:n.2345+85_2345+86insAGT
XM_011545031.1:c.2345+85_2345+86insAGT	XP_011543333.1:n.2345+85_2345+86insAGT
XR_949925.1:n.2360+85_2360+86insAGT
XR_949926.1:n.2360+85_2360+86insAGT
XM_017017735.1:c.575+85_575+86insAGT	XP_016873224.1:n.575+85_575+86insAGT
XR_001747874.1:n.2360+85_2360+86insAGT
XR_949925.2:n.2360+85_2360+86insAGT
XR_949926.2:n.2360+85_2360+86insAGT
NM_002335.4:c.2318+85_2318+86insAGT MANE Select	NP_002326.2:n.2318+85_2318+86insAGT
NM_001291902.2:c.575+85_575+86insAGT	NP_001278831.1:n.575+85_575+86insAGT