Canonical Allele Identifier: CA918983551
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1591337824

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121582812_121582813del , CM000673.2:g.121582812_121582813del GRCh38
NC_000011.9:g.121453521_121453522del , CM000673.1:g.121453521_121453522del GRCh37
NC_000011.8:g.120958731_120958732del NCBI36
NG_023313.1:g.135561_135562del

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.3581-646_3581-645del MANE Select ENSP00000260197.6:n.3581-646_3581-645del
ENST00000260197.11:c.3581-646_3581-645del ENSP00000260197.6:n.3581-646_3581-645del
ENST00000525532.5:c.413-646_413-645del ENSP00000434634.1:n.413-646_413-645del
ENST00000532694.5:c.119-646_119-645del ENSP00000432131.1:n.119-646_119-645del
ENST00000534286.5:c.311-646_311-645del ENSP00000436447.1:n.311-646_311-645del
NM_003105.5:c.3581-646_3581-645del NP_003096.1:n.3581-646_3581-645del
XM_011542963.1:c.3467-646_3467-645del XP_011541265.1:n.3467-646_3467-645del
XM_011542964.1:c.3581-646_3581-645del XP_011541266.1:n.3581-646_3581-645del
XM_011542965.1:c.2042-646_2042-645del XP_011541267.1:n.2042-646_2042-645del
XM_011542966.1:c.941-646_941-645del XP_011541268.1:n.941-646_941-645del
XM_011542967.1:c.413-646_413-645del XP_011541269.1:n.413-646_413-645del
XM_011542963.3:c.3467-646_3467-645del XP_011541265.1:n.3467-646_3467-645del
XM_011542965.3:c.2042-646_2042-645del XP_011541267.1:n.2042-646_2042-645del
XM_011542967.3:c.413-646_413-645del XP_011541269.1:n.413-646_413-645del
XM_017018169.2:c.3269-646_3269-645del XP_016873658.1:n.3269-646_3269-645del
XM_017018170.2:c.3056-646_3056-645del XP_016873659.1:n.3056-646_3056-645del
XM_017018171.1:c.3581-646_3581-645del XP_016873660.1:n.3581-646_3581-645del
XM_017018172.2:c.941-646_941-645del XP_016873661.1:n.941-646_941-645del
NM_003105.6:c.3581-646_3581-645del MANE Select NP_003096.2:n.3581-646_3581-645del