Canonical Allele Identifier: CA672579824
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1486975312

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121496845_121496848del , CM000673.2:g.121496845_121496848del GRCh38
NC_000011.9:g.121367554_121367557del , CM000673.1:g.121367554_121367557del GRCh37
NC_000011.8:g.120872764_120872767del NCBI36
NG_023313.1:g.49594_49597del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.759-24_759-21del MANE Select ENSP00000260197.6:n.759-24_759-21del
ENST00000260197.11:c.759-24_759-21del ENSP00000260197.6:n.759-24_759-21del
ENST00000532451.1:n.711-24_711-21del
NM_003105.5:c.759-24_759-21del NP_003096.1:n.759-24_759-21del
XM_011542963.1:c.759-24_759-21del XP_011541265.1:n.759-24_759-21del
XM_011542964.1:c.759-24_759-21del XP_011541266.1:n.759-24_759-21del
XM_011542963.3:c.759-24_759-21del XP_011541265.1:n.759-24_759-21del
XM_017018169.2:c.447-24_447-21del XP_016873658.1:n.447-24_447-21del
XM_017018170.2:c.234-24_234-21del XP_016873659.1:n.234-24_234-21del
XM_017018171.1:c.759-24_759-21del XP_016873660.1:n.759-24_759-21del
NM_003105.6:c.759-24_759-21del MANE Select NP_003096.2:n.759-24_759-21del