Canonical Allele Identifier: CA2793898513

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558784_121558785insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG , CM000673.2:g.121558784_121558785insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	GRCh38
NC_000011.9:g.121429493_121429494insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG , CM000673.1:g.121429493_121429494insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	GRCh37
NC_000011.8:g.120934703_120934704insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	NCBI36
NG_023313.1:g.111533_111534insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2857_2858insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG MANE Select	ENSP00000260197.6:p.Arg953GlnfsTer7
ENST00000260197.11:c.2857_2858insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	ENSP00000260197.6:p.Arg953GlnfsTer7
ENST00000529445.1:n.563_564insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG
NM_003105.5:c.2857_2858insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	NP_003096.1:p.Arg953GlnfsTer7
XM_011542963.1:c.2857_2858insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	XP_011541265.1:p.Arg953GlnfsTer7
XM_011542964.1:c.2857_2858insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	XP_011541266.1:p.Arg953GlnfsTer7
XM_011542965.1:c.1318_1319insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	XP_011541267.1:p.Arg440GlnfsTer7
XM_011542966.1:c.217_218insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	XP_011541268.1:p.Arg73GlnfsTer7
XM_011542963.3:c.2857_2858insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	XP_011541265.1:p.Arg953GlnfsTer7
XM_011542965.3:c.1318_1319insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	XP_011541267.1:p.Arg440GlnfsTer7
XM_017018169.2:c.2545_2546insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	XP_016873658.1:p.Arg849GlnfsTer7
XM_017018170.2:c.2332_2333insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	XP_016873659.1:p.Arg778GlnfsTer7
XM_017018171.1:c.2857_2858insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	XP_016873660.1:p.Arg953GlnfsTer7
XM_017018172.2:c.217_218insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG	XP_016873661.1:p.Arg73GlnfsTer7
NM_003105.6:c.2857_2858insAACAAATGGACTCACCTTAAAGACAGCAATGGCATAGGGGTGCG MANE Select	NP_003096.2:p.Arg953GlnfsTer7