Canonical Allele Identifier: CA6328466

Gene: SORL1

Linked Data

• ClinVar Variation Id: 3049956
• ClinVar RCV Id: RCV003944573
• dbSNP Id: rs112421669
• ExAC: 11:121367557 C / CTT
• gnomAD v2: 11-121367557-C-CTT
• gnomAD v3: 11-121496848-C-CTT
• gnomAD v4: 11-121496848-C-CTT
• MyVariant Identifiers: chr11:g.121367560_121367561insTT (hg19) ; chr11:g.121367557_121367558insTT (hg19) ; chr11:g.121496848_121496849insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121496860_121496861dup , CM000673.2:g.121496860_121496861dup	GRCh38
NC_000011.9:g.121367569_121367570dup , CM000673.1:g.121367569_121367570dup	GRCh37
NC_000011.8:g.120872779_120872780dup	NCBI36
NG_023313.1:g.49609_49610dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.759-9_759-8dup MANE Select	ENSP00000260197.6:n.759-9_759-8dup
ENST00000260197.11:c.759-9_759-8dup	ENSP00000260197.6:n.759-9_759-8dup
ENST00000532451.1:n.711-9_711-8dup
NM_003105.5:c.759-9_759-8dup	NP_003096.1:n.759-9_759-8dup
XM_011542963.1:c.759-9_759-8dup	XP_011541265.1:n.759-9_759-8dup
XM_011542964.1:c.759-9_759-8dup	XP_011541266.1:n.759-9_759-8dup
XM_011542963.3:c.759-9_759-8dup	XP_011541265.1:n.759-9_759-8dup
XM_017018169.2:c.447-9_447-8dup	XP_016873658.1:n.447-9_447-8dup
XM_017018170.2:c.234-9_234-8dup	XP_016873659.1:n.234-9_234-8dup
XM_017018171.1:c.759-9_759-8dup	XP_016873660.1:n.759-9_759-8dup
NM_003105.6:c.759-9_759-8dup MANE Select	NP_003096.2:n.759-9_759-8dup