Canonical Allele Identifier: CA2004892342

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121496843_121496847delinsACAAC , CM000673.2:g.121496843_121496847delinsACAAC	GRCh38
NC_000011.9:g.121367552_121367556delinsACAAC , CM000673.1:g.121367552_121367556delinsACAAC	GRCh37
NC_000011.8:g.120872762_120872766delinsACAAC	NCBI36
NG_023313.1:g.49592_49596delinsACAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.759-26_759-22delinsACAAC MANE Select	ENSP00000260197.6:n.759-26_759-22delinsACAAC
ENST00000260197.11:c.759-26_759-22delinsACAAC	ENSP00000260197.6:n.759-26_759-22delinsACAAC
ENST00000532451.1:n.711-26_711-22delinsACAAC
NM_003105.5:c.759-26_759-22delinsACAAC	NP_003096.1:n.759-26_759-22delinsACAAC
XM_011542963.1:c.759-26_759-22delinsACAAC	XP_011541265.1:n.759-26_759-22delinsACAAC
XM_011542964.1:c.759-26_759-22delinsACAAC	XP_011541266.1:n.759-26_759-22delinsACAAC
XM_011542963.3:c.759-26_759-22delinsACAAC	XP_011541265.1:n.759-26_759-22delinsACAAC
XM_017018169.2:c.447-26_447-22delinsACAAC	XP_016873658.1:n.447-26_447-22delinsACAAC
XM_017018170.2:c.234-26_234-22delinsACAAC	XP_016873659.1:n.234-26_234-22delinsACAAC
XM_017018171.1:c.759-26_759-22delinsACAAC	XP_016873660.1:n.759-26_759-22delinsACAAC
NM_003105.6:c.759-26_759-22delinsACAAC MANE Select	NP_003096.2:n.759-26_759-22delinsACAAC