Canonical Allele Identifier: CA2004916837
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1862525522

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121552919dup , CM000673.2:g.121552919dup GRCh38
NC_000011.9:g.121423628dup , CM000673.1:g.121423628dup GRCh37
NC_000011.8:g.120928838dup NCBI36
NG_023313.1:g.105668dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.2267-1018dup MANE Select ENSP00000260197.6:n.2267-1018dup
ENST00000260197.11:c.2267-1018dup ENSP00000260197.6:n.2267-1018dup
NM_003105.5:c.2267-1018dup NP_003096.1:n.2267-1018dup
XM_011542963.1:c.2267-1018dup XP_011541265.1:n.2267-1018dup
XM_011542964.1:c.2267-1018dup XP_011541266.1:n.2267-1018dup
XM_011542965.1:c.728-1018dup XP_011541267.1:n.728-1018dup
XM_011542963.3:c.2267-1018dup XP_011541265.1:n.2267-1018dup
XM_011542965.3:c.728-1018dup XP_011541267.1:n.728-1018dup
XM_017018169.2:c.1955-1018dup XP_016873658.1:n.1955-1018dup
XM_017018170.2:c.1742-1018dup XP_016873659.1:n.1742-1018dup
XM_017018171.1:c.2267-1018dup XP_016873660.1:n.2267-1018dup
XM_017018172.2:c.-282-1018dup XP_016873661.1:n.-282-1018dup
NM_003105.6:c.2267-1018dup MANE Select NP_003096.2:n.2267-1018dup