Canonical Allele Identifier: CA2616495942

Gene: SORL1

Linked Data

• gnomAD v4: 11-121496847-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121496847_121496848insT , CM000673.2:g.121496847_121496848insT	GRCh38
NC_000011.9:g.121367556_121367557insT , CM000673.1:g.121367556_121367557insT	GRCh37
NC_000011.8:g.120872766_120872767insT	NCBI36
NG_023313.1:g.49596_49597insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.759-22_759-21insT MANE Select	ENSP00000260197.6:n.759-22_759-21insT
ENST00000260197.11:c.759-22_759-21insT	ENSP00000260197.6:n.759-22_759-21insT
ENST00000532451.1:n.711-22_711-21insT
NM_003105.5:c.759-22_759-21insT	NP_003096.1:n.759-22_759-21insT
XM_011542963.1:c.759-22_759-21insT	XP_011541265.1:n.759-22_759-21insT
XM_011542964.1:c.759-22_759-21insT	XP_011541266.1:n.759-22_759-21insT
XM_011542963.3:c.759-22_759-21insT	XP_011541265.1:n.759-22_759-21insT
XM_017018169.2:c.447-22_447-21insT	XP_016873658.1:n.447-22_447-21insT
XM_017018170.2:c.234-22_234-21insT	XP_016873659.1:n.234-22_234-21insT
XM_017018171.1:c.759-22_759-21insT	XP_016873660.1:n.759-22_759-21insT
NM_003105.6:c.759-22_759-21insT MANE Select	NP_003096.2:n.759-22_759-21insT