Canonical Allele Identifier: CA2004910215

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522358_121522359delinsCT , CM000673.2:g.121522358_121522359delinsCT	GRCh38
NC_000011.9:g.121393067_121393068delinsCT , CM000673.1:g.121393067_121393068delinsCT	GRCh37
NC_000011.8:g.120898277_120898278delinsCT	NCBI36
NG_023313.1:g.75107_75108delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.1405-228_1405-227delinsCT MANE Select	ENSP00000260197.6:n.1405-228_1405-227delinsCT
ENST00000260197.11:c.1405-228_1405-227delinsCT	ENSP00000260197.6:n.1405-228_1405-227delinsCT
ENST00000532451.1:n.1357-228_1357-227delinsCT
NM_003105.5:c.1405-228_1405-227delinsCT	NP_003096.1:n.1405-228_1405-227delinsCT
XM_011542963.1:c.1405-228_1405-227delinsCT	XP_011541265.1:n.1405-228_1405-227delinsCT
XM_011542964.1:c.1405-228_1405-227delinsCT	XP_011541266.1:n.1405-228_1405-227delinsCT
XM_011542965.1:c.-218-228_-218-227delinsCT	XP_011541267.1:n.-218-228_-218-227delinsCT
XM_011542963.3:c.1405-228_1405-227delinsCT	XP_011541265.1:n.1405-228_1405-227delinsCT
XM_011542965.3:c.-218-228_-218-227delinsCT	XP_011541267.1:n.-218-228_-218-227delinsCT
XM_017018169.2:c.1093-228_1093-227delinsCT	XP_016873658.1:n.1093-228_1093-227delinsCT
XM_017018170.2:c.880-228_880-227delinsCT	XP_016873659.1:n.880-228_880-227delinsCT
XM_017018171.1:c.1405-228_1405-227delinsCT	XP_016873660.1:n.1405-228_1405-227delinsCT
NM_003105.6:c.1405-228_1405-227delinsCT MANE Select	NP_003096.2:n.1405-228_1405-227delinsCT