Canonical Allele Identifier: CA2004883312
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121486234_121486235delinsTC , CM000673.2:g.121486234_121486235delinsTC GRCh38
NC_000011.9:g.121356943_121356944delinsTC , CM000673.1:g.121356943_121356944delinsTC GRCh37
NC_000011.8:g.120862153_120862154delinsTC NCBI36
NG_023313.1:g.38983_38984delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.529-1798_529-1797delinsTC MANE Select ENSP00000260197.6:n.529-1798_529-1797delinsTC
ENST00000260197.11:c.529-1798_529-1797delinsTC ENSP00000260197.6:n.529-1798_529-1797delinsTC
ENST00000532451.1:n.481-1798_481-1797delinsTC
NM_003105.5:c.529-1798_529-1797delinsTC NP_003096.1:n.529-1798_529-1797delinsTC
XM_011542963.1:c.529-1798_529-1797delinsTC XP_011541265.1:n.529-1798_529-1797delinsTC
XM_011542964.1:c.529-1798_529-1797delinsTC XP_011541266.1:n.529-1798_529-1797delinsTC
XM_011542963.3:c.529-1798_529-1797delinsTC XP_011541265.1:n.529-1798_529-1797delinsTC
XM_017018169.2:c.217-1798_217-1797delinsTC XP_016873658.1:n.217-1798_217-1797delinsTC
XM_017018171.1:c.529-1798_529-1797delinsTC XP_016873660.1:n.529-1798_529-1797delinsTC
NM_003105.6:c.529-1798_529-1797delinsTC MANE Select NP_003096.2:n.529-1798_529-1797delinsTC