Canonical Allele Identifier: CA2004896350
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121505259_121505260delinsCT , CM000673.2:g.121505259_121505260delinsCT GRCh38
NC_000011.9:g.121375968_121375969delinsCT , CM000673.1:g.121375968_121375969delinsCT GRCh37
NC_000011.8:g.120881178_120881179delinsCT NCBI36
NG_023313.1:g.58008_58009delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.940-7744_940-7743delinsCT MANE Select ENSP00000260197.6:n.940-7744_940-7743deli...
ENST00000260197.11:c.940-7744_940-7743delinsCT ENSP00000260197.6:n.940-7744_940-7743deli...
ENST00000532451.1:n.892-7744_892-7743delinsCT
NM_003105.5:c.940-7744_940-7743delinsCT NP_003096.1:n.940-7744_940-7743delinsCT
XM_011542963.1:c.940-7744_940-7743delinsCT XP_011541265.1:n.940-7744_940-7743delinsC...
XM_011542964.1:c.940-7744_940-7743delinsCT XP_011541266.1:n.940-7744_940-7743delinsC...
XM_011542963.3:c.940-7744_940-7743delinsCT XP_011541265.1:n.940-7744_940-7743delinsC...
XM_011542965.3:c.-683-7744_-683-7743delinsCT XP_011541267.1:n.-683-7744_-683-7743delin...
XM_017018169.2:c.628-7744_628-7743delinsCT XP_016873658.1:n.628-7744_628-7743delinsC...
XM_017018170.2:c.415-7744_415-7743delinsCT XP_016873659.1:n.415-7744_415-7743delinsC...
XM_017018171.1:c.940-7744_940-7743delinsCT XP_016873660.1:n.940-7744_940-7743delinsC...
NM_003105.6:c.940-7744_940-7743delinsCT MANE Select NP_003096.2:n.940-7744_940-7743delinsCT