Canonical Allele Identifier: CA2004896385

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121505356_121505357delinsTG , CM000673.2:g.121505356_121505357delinsTG	GRCh38
NC_000011.9:g.121376065_121376066delinsTG , CM000673.1:g.121376065_121376066delinsTG	GRCh37
NC_000011.8:g.120881275_120881276delinsTG	NCBI36
NG_023313.1:g.58105_58106delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.940-7647_940-7646delinsTG MANE Select	ENSP00000260197.6:n.940-7647_940-7646delinsTG
ENST00000260197.11:c.940-7647_940-7646delinsTG	ENSP00000260197.6:n.940-7647_940-7646delinsTG
ENST00000532451.1:n.892-7647_892-7646delinsTG
NM_003105.5:c.940-7647_940-7646delinsTG	NP_003096.1:n.940-7647_940-7646delinsTG
XM_011542963.1:c.940-7647_940-7646delinsTG	XP_011541265.1:n.940-7647_940-7646delinsTG
XM_011542964.1:c.940-7647_940-7646delinsTG	XP_011541266.1:n.940-7647_940-7646delinsTG
XM_011542963.3:c.940-7647_940-7646delinsTG	XP_011541265.1:n.940-7647_940-7646delinsTG
XM_011542965.3:c.-683-7647_-683-7646delinsTG	XP_011541267.1:n.-683-7647_-683-7646delinsTG
XM_017018169.2:c.628-7647_628-7646delinsTG	XP_016873658.1:n.628-7647_628-7646delinsTG
XM_017018170.2:c.415-7647_415-7646delinsTG	XP_016873659.1:n.415-7647_415-7646delinsTG
XM_017018171.1:c.940-7647_940-7646delinsTG	XP_016873660.1:n.940-7647_940-7646delinsTG
NM_003105.6:c.940-7647_940-7646delinsTG MANE Select	NP_003096.2:n.940-7647_940-7646delinsTG