Canonical Allele Identifier: CA2792540720

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410259_68410260insTAG , CM000673.2:g.68410259_68410260insTAG	GRCh38
NC_000011.9:g.68177727_68177728insTAG , CM000673.1:g.68177727_68177728insTAG	GRCh37
NC_000011.8:g.67934303_67934304insTAG	NCBI36
NG_015835.1:g.102620_102621insTAG
NG_015835.2:g.102620_102621insTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2318+119_2318+120insTAG MANE Select	ENSP00000294304.6:n.2318+119_2318+120insTAG
ENST00000294304.11:c.2318+119_2318+120insTAG	ENSP00000294304.6:n.2318+119_2318+120insTAG
ENST00000528714.1:n.112+119_112+120insTAG
ENST00000529993.5:c.*924+119_*924+120insTAG	ENSP00000436652.1:n.*924+119_*924+120insTAG
NM_001291902.1:c.575+119_575+120insTAG	NP_001278831.1:n.575+119_575+120insTAG
NM_002335.3:c.2318+119_2318+120insTAG	NP_002326.2:n.2318+119_2318+120insTAG
XM_005273994.2:c.2318+119_2318+120insTAG	XP_005274051.1:n.2318+119_2318+120insTAG
XM_011545029.1:c.2345+119_2345+120insTAG	XP_011543331.1:n.2345+119_2345+120insTAG
XM_011545030.1:c.2345+119_2345+120insTAG	XP_011543332.1:n.2345+119_2345+120insTAG
XM_011545031.1:c.2345+119_2345+120insTAG	XP_011543333.1:n.2345+119_2345+120insTAG
XR_949925.1:n.2360+119_2360+120insTAG
XR_949926.1:n.2360+119_2360+120insTAG
XM_017017735.1:c.575+119_575+120insTAG	XP_016873224.1:n.575+119_575+120insTAG
XR_001747874.1:n.2360+119_2360+120insTAG
XR_949925.2:n.2360+119_2360+120insTAG
XR_949926.2:n.2360+119_2360+120insTAG
NM_002335.4:c.2318+119_2318+120insTAG MANE Select	NP_002326.2:n.2318+119_2318+120insTAG
NM_001291902.2:c.575+119_575+120insTAG	NP_001278831.1:n.575+119_575+120insTAG