Canonical Allele Identifier: CA2575009187
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522822del , CM000673.2:g.121522822del GRCh38
NC_000011.9:g.121393531del , CM000673.1:g.121393531del GRCh37
NC_000011.8:g.120898741del NCBI36
NG_023313.1:g.75571del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.1523-94del MANE Select ENSP00000260197.6:n.1523-94del
ENST00000260197.11:c.1523-94del ENSP00000260197.6:n.1523-94del
ENST00000532451.1:n.1475-94del
NM_003105.5:c.1523-94del NP_003096.1:n.1523-94del
XM_011542963.1:c.1523-94del XP_011541265.1:n.1523-94del
XM_011542964.1:c.1523-94del XP_011541266.1:n.1523-94del
XM_011542965.1:c.-100-94del XP_011541267.1:n.-100-94del
XM_011542963.3:c.1523-94del XP_011541265.1:n.1523-94del
XM_011542965.3:c.-100-94del XP_011541267.1:n.-100-94del
XM_017018169.2:c.1211-94del XP_016873658.1:n.1211-94del
XM_017018170.2:c.998-94del XP_016873659.1:n.998-94del
XM_017018171.1:c.1523-94del XP_016873660.1:n.1523-94del
NM_003105.6:c.1523-94del MANE Select NP_003096.2:n.1523-94del