Canonical Allele Identifier: CA2792540599

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410181_68410182insAGA , CM000673.2:g.68410181_68410182insAGA	GRCh38
NC_000011.9:g.68177649_68177650insAGA , CM000673.1:g.68177649_68177650insAGA	GRCh37
NC_000011.8:g.67934225_67934226insAGA	NCBI36
NG_015835.1:g.102542_102543insAGA
NG_015835.2:g.102542_102543insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2318+41_2318+42insAGA MANE Select	ENSP00000294304.6:n.2318+41_2318+42insAGA
ENST00000294304.11:c.2318+41_2318+42insAGA	ENSP00000294304.6:n.2318+41_2318+42insAGA
ENST00000528714.1:n.112+41_112+42insAGA
ENST00000529993.5:c.*924+41_*924+42insAGA	ENSP00000436652.1:n.*924+41_*924+42insAGA
NM_001291902.1:c.575+41_575+42insAGA	NP_001278831.1:n.575+41_575+42insAGA
NM_002335.3:c.2318+41_2318+42insAGA	NP_002326.2:n.2318+41_2318+42insAGA
XM_005273994.2:c.2318+41_2318+42insAGA	XP_005274051.1:n.2318+41_2318+42insAGA
XM_011545029.1:c.2345+41_2345+42insAGA	XP_011543331.1:n.2345+41_2345+42insAGA
XM_011545030.1:c.2345+41_2345+42insAGA	XP_011543332.1:n.2345+41_2345+42insAGA
XM_011545031.1:c.2345+41_2345+42insAGA	XP_011543333.1:n.2345+41_2345+42insAGA
XR_949925.1:n.2360+41_2360+42insAGA
XR_949926.1:n.2360+41_2360+42insAGA
XM_017017735.1:c.575+41_575+42insAGA	XP_016873224.1:n.575+41_575+42insAGA
XR_001747874.1:n.2360+41_2360+42insAGA
XR_949925.2:n.2360+41_2360+42insAGA
XR_949926.2:n.2360+41_2360+42insAGA
NM_002335.4:c.2318+41_2318+42insAGA MANE Select	NP_002326.2:n.2318+41_2318+42insAGA
NM_001291902.2:c.575+41_575+42insAGA	NP_001278831.1:n.575+41_575+42insAGA