Canonical Allele Identifier: CA942945495
Gene: SORL1 HGNC NCBI

Linked Data

gnomAD v3: 11-121486301-C-CA
gnomAD v4: 11-121486301-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121486302dup , CM000673.2:g.121486302dup GRCh38
NC_000011.9:g.121357011dup , CM000673.1:g.121357011dup GRCh37
NC_000011.8:g.120862221dup NCBI36
NG_023313.1:g.39051dup

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.529-1730dup MANE Select ENSP00000260197.6:n.529-1730dup
ENST00000260197.11:c.529-1730dup ENSP00000260197.6:n.529-1730dup
ENST00000532451.1:n.481-1730dup
NM_003105.5:c.529-1730dup NP_003096.1:n.529-1730dup
XM_011542963.1:c.529-1730dup XP_011541265.1:n.529-1730dup
XM_011542964.1:c.529-1730dup XP_011541266.1:n.529-1730dup
XM_011542963.3:c.529-1730dup XP_011541265.1:n.529-1730dup
XM_017018169.2:c.217-1730dup XP_016873658.1:n.217-1730dup
XM_017018171.1:c.529-1730dup XP_016873660.1:n.529-1730dup
NM_003105.6:c.529-1730dup MANE Select NP_003096.2:n.529-1730dup
Search 100 bp 5'
Search 100 bp 3'