Canonical Allele Identifier: CA2792540700

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410251_68410252insACA , CM000673.2:g.68410251_68410252insACA	GRCh38
NC_000011.9:g.68177719_68177720insACA , CM000673.1:g.68177719_68177720insACA	GRCh37
NC_000011.8:g.67934295_67934296insACA	NCBI36
NG_015835.1:g.102612_102613insACA
NG_015835.2:g.102612_102613insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2318+111_2318+112insACA MANE Select	ENSP00000294304.6:n.2318+111_2318+112insACA
ENST00000294304.11:c.2318+111_2318+112insACA	ENSP00000294304.6:n.2318+111_2318+112insACA
ENST00000528714.1:n.112+111_112+112insACA
ENST00000529993.5:c.*924+111_*924+112insACA	ENSP00000436652.1:n.*924+111_*924+112insACA
NM_001291902.1:c.575+111_575+112insACA	NP_001278831.1:n.575+111_575+112insACA
NM_002335.3:c.2318+111_2318+112insACA	NP_002326.2:n.2318+111_2318+112insACA
XM_005273994.2:c.2318+111_2318+112insACA	XP_005274051.1:n.2318+111_2318+112insACA
XM_011545029.1:c.2345+111_2345+112insACA	XP_011543331.1:n.2345+111_2345+112insACA
XM_011545030.1:c.2345+111_2345+112insACA	XP_011543332.1:n.2345+111_2345+112insACA
XM_011545031.1:c.2345+111_2345+112insACA	XP_011543333.1:n.2345+111_2345+112insACA
XR_949925.1:n.2360+111_2360+112insACA
XR_949926.1:n.2360+111_2360+112insACA
XM_017017735.1:c.575+111_575+112insACA	XP_016873224.1:n.575+111_575+112insACA
XR_001747874.1:n.2360+111_2360+112insACA
XR_949925.2:n.2360+111_2360+112insACA
XR_949926.2:n.2360+111_2360+112insACA
NM_002335.4:c.2318+111_2318+112insACA MANE Select	NP_002326.2:n.2318+111_2318+112insACA
NM_001291902.2:c.575+111_575+112insACA	NP_001278831.1:n.575+111_575+112insACA