Canonical Allele Identifier: CA2725113070
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs2134858828

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522999dup , CM000673.2:g.121522999dup GRCh38
NC_000011.9:g.121393708dup , CM000673.1:g.121393708dup GRCh37
NC_000011.8:g.120898918dup NCBI36
NG_023313.1:g.75748dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.1596+10dup MANE Select ENSP00000260197.6:n.1596+10dup
ENST00000260197.11:c.1596+10dup ENSP00000260197.6:n.1596+10dup
ENST00000532451.1:n.1548+10dup
NM_003105.5:c.1596+10dup NP_003096.1:n.1596+10dup
XM_011542963.1:c.1596+10dup XP_011541265.1:n.1596+10dup
XM_011542964.1:c.1596+10dup XP_011541266.1:n.1596+10dup
XM_011542965.1:c.-27+10dup XP_011541267.1:n.-27+10dup
XM_011542963.3:c.1596+10dup XP_011541265.1:n.1596+10dup
XM_011542965.3:c.-27+10dup XP_011541267.1:n.-27+10dup
XM_017018169.2:c.1284+10dup XP_016873658.1:n.1284+10dup
XM_017018170.2:c.1071+10dup XP_016873659.1:n.1071+10dup
XM_017018171.1:c.1596+10dup XP_016873660.1:n.1596+10dup
NM_003105.6:c.1596+10dup MANE Select NP_003096.2:n.1596+10dup