Canonical Allele Identifier: CA672592528
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1204577521

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522432del , CM000673.2:g.121522432del GRCh38
NC_000011.9:g.121393141del , CM000673.1:g.121393141del GRCh37
NC_000011.8:g.120898351del NCBI36
NG_023313.1:g.75181del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.1405-154del MANE Select ENSP00000260197.6:n.1405-154del
ENST00000260197.11:c.1405-154del ENSP00000260197.6:n.1405-154del
ENST00000532451.1:n.1357-154del
NM_003105.5:c.1405-154del NP_003096.1:n.1405-154del
XM_011542963.1:c.1405-154del XP_011541265.1:n.1405-154del
XM_011542964.1:c.1405-154del XP_011541266.1:n.1405-154del
XM_011542965.1:c.-218-154del XP_011541267.1:n.-218-154del
XM_011542963.3:c.1405-154del XP_011541265.1:n.1405-154del
XM_011542965.3:c.-218-154del XP_011541267.1:n.-218-154del
XM_017018169.2:c.1093-154del XP_016873658.1:n.1093-154del
XM_017018170.2:c.880-154del XP_016873659.1:n.880-154del
XM_017018171.1:c.1405-154del XP_016873660.1:n.1405-154del
NM_003105.6:c.1405-154del MANE Select NP_003096.2:n.1405-154del