Canonical Allele Identifier: CA2004883631
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1861475300

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121486545del , CM000673.2:g.121486545del GRCh38
NC_000011.9:g.121357254del , CM000673.1:g.121357254del GRCh37
NC_000011.8:g.120862464del NCBI36
NG_023313.1:g.39294del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.529-1487del MANE Select ENSP00000260197.6:n.529-1487del
ENST00000260197.11:c.529-1487del ENSP00000260197.6:n.529-1487del
ENST00000532451.1:n.481-1487del
NM_003105.5:c.529-1487del NP_003096.1:n.529-1487del
XM_011542963.1:c.529-1487del XP_011541265.1:n.529-1487del
XM_011542964.1:c.529-1487del XP_011541266.1:n.529-1487del
XM_011542963.3:c.529-1487del XP_011541265.1:n.529-1487del
XM_017018169.2:c.217-1487del XP_016873658.1:n.217-1487del
XM_017018170.2:c.3+88del XP_016873659.1:n.3+88del
XM_017018171.1:c.529-1487del XP_016873660.1:n.529-1487del
NM_003105.6:c.529-1487del MANE Select NP_003096.2:n.529-1487del