Canonical Allele Identifier: CA229968153
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1019324813

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121486483_121486484insC , CM000673.2:g.121486483_121486484insC GRCh38
NC_000011.9:g.121357192_121357193insC , CM000673.1:g.121357192_121357193insC GRCh37
NC_000011.8:g.120862402_120862403insC NCBI36
NG_023313.1:g.39232_39233insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.529-1549_529-1548insC MANE Select ENSP00000260197.6:n.529-1549_529-1548insC
ENST00000260197.11:c.529-1549_529-1548insC ENSP00000260197.6:n.529-1549_529-1548insC
ENST00000532451.1:n.481-1549_481-1548insC
NM_003105.5:c.529-1549_529-1548insC NP_003096.1:n.529-1549_529-1548insC
XM_011542963.1:c.529-1549_529-1548insC XP_011541265.1:n.529-1549_529-1548insC
XM_011542964.1:c.529-1549_529-1548insC XP_011541266.1:n.529-1549_529-1548insC
XM_011542963.3:c.529-1549_529-1548insC XP_011541265.1:n.529-1549_529-1548insC
XM_017018169.2:c.217-1549_217-1548insC XP_016873658.1:n.217-1549_217-1548insC
XM_017018170.2:c.3+26_3+27insC XP_016873659.1:n.3+26_3+27insC
XM_017018171.1:c.529-1549_529-1548insC XP_016873660.1:n.529-1549_529-1548insC
NM_003105.6:c.529-1549_529-1548insC MANE Select NP_003096.2:n.529-1549_529-1548insC