Canonical Allele Identifier: CA2533741264

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121500539_121500540insCCAAAAGCC , CM000673.2:g.121500539_121500540insCCAAAAGCC	GRCh38
NC_000011.9:g.121371248_121371249insCCAAAAGCC , CM000673.1:g.121371248_121371249insCCAAAAGCC	GRCh37
NC_000011.8:g.120876458_120876459insCCAAAAGCC	NCBI36
NG_023313.1:g.53288_53289insCCAAAAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.939+3490_939+3491insCCAAAAGCC MANE Select	ENSP00000260197.6:n.939+3490_939+3491insCCAAAAGCC
ENST00000260197.11:c.939+3490_939+3491insCCAAAAGCC	ENSP00000260197.6:n.939+3490_939+3491insCCAAAAGCC
ENST00000532451.1:n.891+3490_891+3491insCCAAAAGCC
NM_003105.5:c.939+3490_939+3491insCCAAAAGCC	NP_003096.1:n.939+3490_939+3491insCCAAAAGCC
XM_011542963.1:c.939+3490_939+3491insCCAAAAGCC	XP_011541265.1:n.939+3490_939+3491insCCAAAAGCC
XM_011542964.1:c.939+3490_939+3491insCCAAAAGCC	XP_011541266.1:n.939+3490_939+3491insCCAAAAGCC
XM_011542963.3:c.939+3490_939+3491insCCAAAAGCC	XP_011541265.1:n.939+3490_939+3491insCCAAAAGCC
XM_011542965.3:c.-684+3490_-684+3491insCCAAAAGCC	XP_011541267.1:n.-684+3490_-684+3491insCCAAAAGCC
XM_017018169.2:c.627+3490_627+3491insCCAAAAGCC	XP_016873658.1:n.627+3490_627+3491insCCAAAAGCC
XM_017018170.2:c.414+3490_414+3491insCCAAAAGCC	XP_016873659.1:n.414+3490_414+3491insCCAAAAGCC
XM_017018171.1:c.939+3490_939+3491insCCAAAAGCC	XP_016873660.1:n.939+3490_939+3491insCCAAAAGCC
NM_003105.6:c.939+3490_939+3491insCCAAAAGCC MANE Select	NP_003096.2:n.939+3490_939+3491insCCAAAAGCC