Canonical Allele Identifier: CA942945482

Gene: SORL1

Linked Data

• dbSNP Id: rs1861469586
• gnomAD v3: 11-121486273-T-TG
• gnomAD v4: 11-121486273-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486274dup , CM000673.2:g.121486274dup	GRCh38
NC_000011.9:g.121356983dup , CM000673.1:g.121356983dup	GRCh37
NC_000011.8:g.120862193dup	NCBI36
NG_023313.1:g.39023dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1758dup MANE Select	ENSP00000260197.6:n.529-1758dup
ENST00000260197.11:c.529-1758dup	ENSP00000260197.6:n.529-1758dup
ENST00000532451.1:n.481-1758dup
NM_003105.5:c.529-1758dup	NP_003096.1:n.529-1758dup
XM_011542963.1:c.529-1758dup	XP_011541265.1:n.529-1758dup
XM_011542964.1:c.529-1758dup	XP_011541266.1:n.529-1758dup
XM_011542963.3:c.529-1758dup	XP_011541265.1:n.529-1758dup
XM_017018169.2:c.217-1758dup	XP_016873658.1:n.217-1758dup
XM_017018171.1:c.529-1758dup	XP_016873660.1:n.529-1758dup
NM_003105.6:c.529-1758dup MANE Select	NP_003096.2:n.529-1758dup