Canonical Allele Identifier: CA2004892361

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121496847_121496849delinsCCT , CM000673.2:g.121496847_121496849delinsCCT	GRCh38
NC_000011.9:g.121367556_121367558delinsCCT , CM000673.1:g.121367556_121367558delinsCCT	GRCh37
NC_000011.8:g.120872766_120872768delinsCCT	NCBI36
NG_023313.1:g.49596_49598delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.759-22_759-20delinsCCT MANE Select	ENSP00000260197.6:n.759-22_759-20delinsCCT
ENST00000260197.11:c.759-22_759-20delinsCCT	ENSP00000260197.6:n.759-22_759-20delinsCCT
ENST00000532451.1:n.711-22_711-20delinsCCT
NM_003105.5:c.759-22_759-20delinsCCT	NP_003096.1:n.759-22_759-20delinsCCT
XM_011542963.1:c.759-22_759-20delinsCCT	XP_011541265.1:n.759-22_759-20delinsCCT
XM_011542964.1:c.759-22_759-20delinsCCT	XP_011541266.1:n.759-22_759-20delinsCCT
XM_011542963.3:c.759-22_759-20delinsCCT	XP_011541265.1:n.759-22_759-20delinsCCT
XM_017018169.2:c.447-22_447-20delinsCCT	XP_016873658.1:n.447-22_447-20delinsCCT
XM_017018170.2:c.234-22_234-20delinsCCT	XP_016873659.1:n.234-22_234-20delinsCCT
XM_017018171.1:c.759-22_759-20delinsCCT	XP_016873660.1:n.759-22_759-20delinsCCT
NM_003105.6:c.759-22_759-20delinsCCT MANE Select	NP_003096.2:n.759-22_759-20delinsCCT