Canonical Allele Identifier: CA2004896374
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121505339_121505340delinsTC , CM000673.2:g.121505339_121505340delinsTC GRCh38
NC_000011.9:g.121376048_121376049delinsTC , CM000673.1:g.121376048_121376049delinsTC GRCh37
NC_000011.8:g.120881258_120881259delinsTC NCBI36
NG_023313.1:g.58088_58089delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.940-7664_940-7663delinsTC MANE Select ENSP00000260197.6:n.940-7664_940-7663delinsTC
ENST00000260197.11:c.940-7664_940-7663delinsTC ENSP00000260197.6:n.940-7664_940-7663delinsTC
ENST00000532451.1:n.892-7664_892-7663delinsTC
NM_003105.5:c.940-7664_940-7663delinsTC NP_003096.1:n.940-7664_940-7663delinsTC
XM_011542963.1:c.940-7664_940-7663delinsTC XP_011541265.1:n.940-7664_940-7663delinsTC
XM_011542964.1:c.940-7664_940-7663delinsTC XP_011541266.1:n.940-7664_940-7663delinsTC
XM_011542963.3:c.940-7664_940-7663delinsTC XP_011541265.1:n.940-7664_940-7663delinsTC
XM_011542965.3:c.-683-7664_-683-7663delinsTC XP_011541267.1:n.-683-7664_-683-7663delinsTC
XM_017018169.2:c.628-7664_628-7663delinsTC XP_016873658.1:n.628-7664_628-7663delinsTC
XM_017018170.2:c.415-7664_415-7663delinsTC XP_016873659.1:n.415-7664_415-7663delinsTC
XM_017018171.1:c.940-7664_940-7663delinsTC XP_016873660.1:n.940-7664_940-7663delinsTC
NM_003105.6:c.940-7664_940-7663delinsTC MANE Select NP_003096.2:n.940-7664_940-7663delinsTC