Canonical Allele Identifier: CA2793896614

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522786_121522787insCAAACACACCCAACAC , CM000673.2:g.121522786_121522787insCAAACACACCCAACAC	GRCh38
NC_000011.9:g.121393495_121393496insCAAACACACCCAACAC , CM000673.1:g.121393495_121393496insCAAACACACCCAACAC	GRCh37
NC_000011.8:g.120898705_120898706insCAAACACACCCAACAC	NCBI36
NG_023313.1:g.75535_75536insCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1522+83_1522+84insCAAACACACCCAACAC MANE Select	ENSP00000260197.6:n.1522+83_1522+84insCAAACACACCCAACAC
ENST00000260197.11:c.1522+83_1522+84insCAAACACACCCAACAC	ENSP00000260197.6:n.1522+83_1522+84insCAAACACACCCAACAC
ENST00000532451.1:n.1474+83_1474+84insCAAACACACCCAACAC
NM_003105.5:c.1522+83_1522+84insCAAACACACCCAACAC	NP_003096.1:n.1522+83_1522+84insCAAACACACCCAACAC
XM_011542963.1:c.1522+83_1522+84insCAAACACACCCAACAC	XP_011541265.1:n.1522+83_1522+84insCAAACACACCCAACAC
XM_011542964.1:c.1522+83_1522+84insCAAACACACCCAACAC	XP_011541266.1:n.1522+83_1522+84insCAAACACACCCAACAC
XM_011542965.1:c.-101+83_-101+84insCAAACACACCCAACAC	XP_011541267.1:n.-101+83_-101+84insCAAACACACCCAACAC
XM_011542963.3:c.1522+83_1522+84insCAAACACACCCAACAC	XP_011541265.1:n.1522+83_1522+84insCAAACACACCCAACAC
XM_011542965.3:c.-101+83_-101+84insCAAACACACCCAACAC	XP_011541267.1:n.-101+83_-101+84insCAAACACACCCAACAC
XM_017018169.2:c.1210+83_1210+84insCAAACACACCCAACAC	XP_016873658.1:n.1210+83_1210+84insCAAACACACCCAACAC
XM_017018170.2:c.997+83_997+84insCAAACACACCCAACAC	XP_016873659.1:n.997+83_997+84insCAAACACACCCAACAC
XM_017018171.1:c.1522+83_1522+84insCAAACACACCCAACAC	XP_016873660.1:n.1522+83_1522+84insCAAACACACCCAACAC
NM_003105.6:c.1522+83_1522+84insCAAACACACCCAACAC MANE Select	NP_003096.2:n.1522+83_1522+84insCAAACACACCCAACAC