Canonical Allele Identifier: CA2004896301
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121505149_121505150delinsGT , CM000673.2:g.121505149_121505150delinsGT GRCh38
NC_000011.9:g.121375858_121375859delinsGT , CM000673.1:g.121375858_121375859delinsGT GRCh37
NC_000011.8:g.120881068_120881069delinsGT NCBI36
NG_023313.1:g.57898_57899delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.940-7854_940-7853delinsGT MANE Select ENSP00000260197.6:n.940-7854_940-7853deli...
ENST00000260197.11:c.940-7854_940-7853delinsGT ENSP00000260197.6:n.940-7854_940-7853deli...
ENST00000532451.1:n.892-7854_892-7853delinsGT
NM_003105.5:c.940-7854_940-7853delinsGT NP_003096.1:n.940-7854_940-7853delinsGT
XM_011542963.1:c.940-7854_940-7853delinsGT XP_011541265.1:n.940-7854_940-7853delinsG...
XM_011542964.1:c.940-7854_940-7853delinsGT XP_011541266.1:n.940-7854_940-7853delinsG...
XM_011542963.3:c.940-7854_940-7853delinsGT XP_011541265.1:n.940-7854_940-7853delinsG...
XM_011542965.3:c.-683-7854_-683-7853delinsGT XP_011541267.1:n.-683-7854_-683-7853delin...
XM_017018169.2:c.628-7854_628-7853delinsGT XP_016873658.1:n.628-7854_628-7853delinsG...
XM_017018170.2:c.415-7854_415-7853delinsGT XP_016873659.1:n.415-7854_415-7853delinsG...
XM_017018171.1:c.940-7854_940-7853delinsGT XP_016873660.1:n.940-7854_940-7853delinsG...
NM_003105.6:c.940-7854_940-7853delinsGT MANE Select NP_003096.2:n.940-7854_940-7853delinsGT