Canonical Allele Identifier: CA2792540743

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410281_68410282insACAA , CM000673.2:g.68410281_68410282insACAA	GRCh38
NC_000011.9:g.68177749_68177750insACAA , CM000673.1:g.68177749_68177750insACAA	GRCh37
NC_000011.8:g.67934325_67934326insACAA	NCBI36
NG_015835.1:g.102642_102643insACAA
NG_015835.2:g.102642_102643insACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2318+141_2318+142insACAA MANE Select	ENSP00000294304.6:n.2318+141_2318+142insACAA
ENST00000294304.11:c.2318+141_2318+142insACAA	ENSP00000294304.6:n.2318+141_2318+142insACAA
ENST00000528714.1:n.112+141_112+142insACAA
ENST00000529993.5:c.*924+141_*924+142insACAA	ENSP00000436652.1:n.*924+141_*924+142insACAA
NM_001291902.1:c.575+141_575+142insACAA	NP_001278831.1:n.575+141_575+142insACAA
NM_002335.3:c.2318+141_2318+142insACAA	NP_002326.2:n.2318+141_2318+142insACAA
XM_005273994.2:c.2318+141_2318+142insACAA	XP_005274051.1:n.2318+141_2318+142insACAA
XM_011545029.1:c.2345+141_2345+142insACAA	XP_011543331.1:n.2345+141_2345+142insACAA
XM_011545030.1:c.2345+141_2345+142insACAA	XP_011543332.1:n.2345+141_2345+142insACAA
XM_011545031.1:c.2345+141_2345+142insACAA	XP_011543333.1:n.2345+141_2345+142insACAA
XR_949925.1:n.2360+141_2360+142insACAA
XR_949926.1:n.2360+141_2360+142insACAA
XM_017017735.1:c.575+141_575+142insACAA	XP_016873224.1:n.575+141_575+142insACAA
XR_001747874.1:n.2360+141_2360+142insACAA
XR_949925.2:n.2360+141_2360+142insACAA
XR_949926.2:n.2360+141_2360+142insACAA
NM_002335.4:c.2318+141_2318+142insACAA MANE Select	NP_002326.2:n.2318+141_2318+142insACAA
NM_001291902.2:c.575+141_575+142insACAA	NP_001278831.1:n.575+141_575+142insACAA