Canonical Allele Identifier: CA942945652

Gene: SORL1

Linked Data

• dbSNP Id: rs551145449
• gnomAD v3: 11-121486480-C-CTTT
• gnomAD v4: 11-121486480-C-CTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486495_121486497dup , CM000673.2:g.121486495_121486497dup	GRCh38
NC_000011.9:g.121357204_121357206dup , CM000673.1:g.121357204_121357206dup	GRCh37
NC_000011.8:g.120862414_120862416dup	NCBI36
NG_023313.1:g.39244_39246dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1537_529-1535dup MANE Select	ENSP00000260197.6:n.529-1537_529-1535dup
ENST00000260197.11:c.529-1537_529-1535dup	ENSP00000260197.6:n.529-1537_529-1535dup
ENST00000532451.1:n.481-1537_481-1535dup
NM_003105.5:c.529-1537_529-1535dup	NP_003096.1:n.529-1537_529-1535dup
XM_011542963.1:c.529-1537_529-1535dup	XP_011541265.1:n.529-1537_529-1535dup
XM_011542964.1:c.529-1537_529-1535dup	XP_011541266.1:n.529-1537_529-1535dup
XM_011542963.3:c.529-1537_529-1535dup	XP_011541265.1:n.529-1537_529-1535dup
XM_017018169.2:c.217-1537_217-1535dup	XP_016873658.1:n.217-1537_217-1535dup
XM_017018170.2:c.3+38_3+40dup	XP_016873659.1:n.3+38_3+40dup
XM_017018171.1:c.529-1537_529-1535dup	XP_016873660.1:n.529-1537_529-1535dup
NM_003105.6:c.529-1537_529-1535dup MANE Select	NP_003096.2:n.529-1537_529-1535dup