Canonical Allele Identifier: CA2004892358
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121496846_121496847delinsAC , CM000673.2:g.121496846_121496847delinsAC GRCh38
NC_000011.9:g.121367555_121367556delinsAC , CM000673.1:g.121367555_121367556delinsAC GRCh37
NC_000011.8:g.120872765_120872766delinsAC NCBI36
NG_023313.1:g.49595_49596delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.759-23_759-22delinsAC MANE Select ENSP00000260197.6:n.759-23_759-22delinsAC
ENST00000260197.11:c.759-23_759-22delinsAC ENSP00000260197.6:n.759-23_759-22delinsAC
ENST00000532451.1:n.711-23_711-22delinsAC
NM_003105.5:c.759-23_759-22delinsAC NP_003096.1:n.759-23_759-22delinsAC
XM_011542963.1:c.759-23_759-22delinsAC XP_011541265.1:n.759-23_759-22delinsAC
XM_011542964.1:c.759-23_759-22delinsAC XP_011541266.1:n.759-23_759-22delinsAC
XM_011542963.3:c.759-23_759-22delinsAC XP_011541265.1:n.759-23_759-22delinsAC
XM_017018169.2:c.447-23_447-22delinsAC XP_016873658.1:n.447-23_447-22delinsAC
XM_017018170.2:c.234-23_234-22delinsAC XP_016873659.1:n.234-23_234-22delinsAC
XM_017018171.1:c.759-23_759-22delinsAC XP_016873660.1:n.759-23_759-22delinsAC
NM_003105.6:c.759-23_759-22delinsAC MANE Select NP_003096.2:n.759-23_759-22delinsAC