Canonical Allele Identifier: CA2616496783

Gene: SORL1

Linked Data

• gnomAD v4: 11-121522571-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522572dup , CM000673.2:g.121522572dup	GRCh38
NC_000011.9:g.121393281dup , CM000673.1:g.121393281dup	GRCh37
NC_000011.8:g.120898491dup	NCBI36
NG_023313.1:g.75321dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1405-14dup MANE Select	ENSP00000260197.6:n.1405-14dup
ENST00000260197.11:c.1405-14dup	ENSP00000260197.6:n.1405-14dup
ENST00000532451.1:n.1357-14dup
NM_003105.5:c.1405-14dup	NP_003096.1:n.1405-14dup
XM_011542963.1:c.1405-14dup	XP_011541265.1:n.1405-14dup
XM_011542964.1:c.1405-14dup	XP_011541266.1:n.1405-14dup
XM_011542965.1:c.-218-14dup	XP_011541267.1:n.-218-14dup
XM_011542963.3:c.1405-14dup	XP_011541265.1:n.1405-14dup
XM_011542965.3:c.-218-14dup	XP_011541267.1:n.-218-14dup
XM_017018169.2:c.1093-14dup	XP_016873658.1:n.1093-14dup
XM_017018170.2:c.880-14dup	XP_016873659.1:n.880-14dup
XM_017018171.1:c.1405-14dup	XP_016873660.1:n.1405-14dup
NM_003105.6:c.1405-14dup MANE Select	NP_003096.2:n.1405-14dup