Canonical Allele Identifier: CA2792540669

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410228_68410229insA , CM000673.2:g.68410228_68410229insA	GRCh38
NC_000011.9:g.68177696_68177697insA , CM000673.1:g.68177696_68177697insA	GRCh37
NC_000011.8:g.67934272_67934273insA	NCBI36
NG_015835.1:g.102589_102590insA
NG_015835.2:g.102589_102590insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2318+88_2318+89insA MANE Select	ENSP00000294304.6:n.2318+88_2318+89insA
ENST00000294304.11:c.2318+88_2318+89insA	ENSP00000294304.6:n.2318+88_2318+89insA
ENST00000528714.1:n.112+88_112+89insA
ENST00000529993.5:c.*924+88_*924+89insA	ENSP00000436652.1:n.*924+88_*924+89insA
NM_001291902.1:c.575+88_575+89insA	NP_001278831.1:n.575+88_575+89insA
NM_002335.3:c.2318+88_2318+89insA	NP_002326.2:n.2318+88_2318+89insA
XM_005273994.2:c.2318+88_2318+89insA	XP_005274051.1:n.2318+88_2318+89insA
XM_011545029.1:c.2345+88_2345+89insA	XP_011543331.1:n.2345+88_2345+89insA
XM_011545030.1:c.2345+88_2345+89insA	XP_011543332.1:n.2345+88_2345+89insA
XM_011545031.1:c.2345+88_2345+89insA	XP_011543333.1:n.2345+88_2345+89insA
XR_949925.1:n.2360+88_2360+89insA
XR_949926.1:n.2360+88_2360+89insA
XM_017017735.1:c.575+88_575+89insA	XP_016873224.1:n.575+88_575+89insA
XR_001747874.1:n.2360+88_2360+89insA
XR_949925.2:n.2360+88_2360+89insA
XR_949926.2:n.2360+88_2360+89insA
NM_002335.4:c.2318+88_2318+89insA MANE Select	NP_002326.2:n.2318+88_2318+89insA
NM_001291902.2:c.575+88_575+89insA	NP_001278831.1:n.575+88_575+89insA