Canonical Allele Identifier: CA2524871759
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121490215dup , CM000673.2:g.121490215dup GRCh38
NC_000011.9:g.121360924dup , CM000673.1:g.121360924dup GRCh37
NC_000011.8:g.120866134dup NCBI36
NG_023313.1:g.42964dup

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.758+105dup MANE Select ENSP00000260197.6:n.758+105dup
ENST00000260197.11:c.758+105dup ENSP00000260197.6:n.758+105dup
ENST00000532451.1:n.710+105dup
NM_003105.5:c.758+105dup NP_003096.1:n.758+105dup
XM_011542963.1:c.758+105dup XP_011541265.1:n.758+105dup
XM_011542964.1:c.758+105dup XP_011541266.1:n.758+105dup
XM_011542963.3:c.758+105dup XP_011541265.1:n.758+105dup
XM_017018169.2:c.446+105dup XP_016873658.1:n.446+105dup
XM_017018170.2:c.233+105dup XP_016873659.1:n.233+105dup
XM_017018171.1:c.758+105dup XP_016873660.1:n.758+105dup
NM_003105.6:c.758+105dup MANE Select NP_003096.2:n.758+105dup