Canonical Allele Identifier: CA918983438
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1591323880

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121553052_121553057del , CM000673.2:g.121553052_121553057del GRCh38
NC_000011.9:g.121423761_121423766del , CM000673.1:g.121423761_121423766del GRCh37
NC_000011.8:g.120928971_120928976del NCBI36
NG_023313.1:g.105801_105806del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.2267-885_2267-880del MANE Select ENSP00000260197.6:n.2267-885_2267-880del
ENST00000260197.11:c.2267-885_2267-880del ENSP00000260197.6:n.2267-885_2267-880del
NM_003105.5:c.2267-885_2267-880del NP_003096.1:n.2267-885_2267-880del
XM_011542963.1:c.2267-885_2267-880del XP_011541265.1:n.2267-885_2267-880del
XM_011542964.1:c.2267-885_2267-880del XP_011541266.1:n.2267-885_2267-880del
XM_011542965.1:c.728-885_728-880del XP_011541267.1:n.728-885_728-880del
XM_011542963.3:c.2267-885_2267-880del XP_011541265.1:n.2267-885_2267-880del
XM_011542965.3:c.728-885_728-880del XP_011541267.1:n.728-885_728-880del
XM_017018169.2:c.1955-885_1955-880del XP_016873658.1:n.1955-885_1955-880del
XM_017018170.2:c.1742-885_1742-880del XP_016873659.1:n.1742-885_1742-880del
XM_017018171.1:c.2267-885_2267-880del XP_016873660.1:n.2267-885_2267-880del
XM_017018172.2:c.-282-885_-282-880del XP_016873661.1:n.-282-885_-282-880del
NM_003105.6:c.2267-885_2267-880del MANE Select NP_003096.2:n.2267-885_2267-880del