Canonical Allele Identifier: CA2004916875
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1862526821

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121553015_121553025del , CM000673.2:g.121553015_121553025del GRCh38
NC_000011.9:g.121423724_121423734del , CM000673.1:g.121423724_121423734del GRCh37
NC_000011.8:g.120928934_120928944del NCBI36
NG_023313.1:g.105764_105774del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.2267-922_2267-912del MANE Select ENSP00000260197.6:n.2267-922_2267-912del
ENST00000260197.11:c.2267-922_2267-912del ENSP00000260197.6:n.2267-922_2267-912del
NM_003105.5:c.2267-922_2267-912del NP_003096.1:n.2267-922_2267-912del
XM_011542963.1:c.2267-922_2267-912del XP_011541265.1:n.2267-922_2267-912del
XM_011542964.1:c.2267-922_2267-912del XP_011541266.1:n.2267-922_2267-912del
XM_011542965.1:c.728-922_728-912del XP_011541267.1:n.728-922_728-912del
XM_011542963.3:c.2267-922_2267-912del XP_011541265.1:n.2267-922_2267-912del
XM_011542965.3:c.728-922_728-912del XP_011541267.1:n.728-922_728-912del
XM_017018169.2:c.1955-922_1955-912del XP_016873658.1:n.1955-922_1955-912del
XM_017018170.2:c.1742-922_1742-912del XP_016873659.1:n.1742-922_1742-912del
XM_017018171.1:c.2267-922_2267-912del XP_016873660.1:n.2267-922_2267-912del
XM_017018172.2:c.-282-922_-282-912del XP_016873661.1:n.-282-922_-282-912del
NM_003105.6:c.2267-922_2267-912del MANE Select NP_003096.2:n.2267-922_2267-912del