Canonical Allele Identifier: CA2004883506

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486463_121486465delinsACT , CM000673.2:g.121486463_121486465delinsACT	GRCh38
NC_000011.9:g.121357172_121357174delinsACT , CM000673.1:g.121357172_121357174delinsACT	GRCh37
NC_000011.8:g.120862382_120862384delinsACT	NCBI36
NG_023313.1:g.39212_39214delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1569_529-1567delinsACT MANE Select	ENSP00000260197.6:n.529-1569_529-1567delinsACT
ENST00000260197.11:c.529-1569_529-1567delinsACT	ENSP00000260197.6:n.529-1569_529-1567delinsACT
ENST00000532451.1:n.481-1569_481-1567delinsACT
NM_003105.5:c.529-1569_529-1567delinsACT	NP_003096.1:n.529-1569_529-1567delinsACT
XM_011542963.1:c.529-1569_529-1567delinsACT	XP_011541265.1:n.529-1569_529-1567delinsACT
XM_011542964.1:c.529-1569_529-1567delinsACT	XP_011541266.1:n.529-1569_529-1567delinsACT
XM_011542963.3:c.529-1569_529-1567delinsACT	XP_011541265.1:n.529-1569_529-1567delinsACT
XM_017018169.2:c.217-1569_217-1567delinsACT	XP_016873658.1:n.217-1569_217-1567delinsACT
XM_017018170.2:c.3+6_3+8delinsACT	XP_016873659.1:n.3+6_3+8delinsACT
XM_017018171.1:c.529-1569_529-1567delinsACT	XP_016873660.1:n.529-1569_529-1567delinsACT
NM_003105.6:c.529-1569_529-1567delinsACT MANE Select	NP_003096.2:n.529-1569_529-1567delinsACT