Canonical Allele Identifier: CA2004883628

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486544_121486545delinsCT , CM000673.2:g.121486544_121486545delinsCT	GRCh38
NC_000011.9:g.121357253_121357254delinsCT , CM000673.1:g.121357253_121357254delinsCT	GRCh37
NC_000011.8:g.120862463_120862464delinsCT	NCBI36
NG_023313.1:g.39293_39294delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1488_529-1487delinsCT MANE Select	ENSP00000260197.6:n.529-1488_529-1487delinsCT
ENST00000260197.11:c.529-1488_529-1487delinsCT	ENSP00000260197.6:n.529-1488_529-1487delinsCT
ENST00000532451.1:n.481-1488_481-1487delinsCT
NM_003105.5:c.529-1488_529-1487delinsCT	NP_003096.1:n.529-1488_529-1487delinsCT
XM_011542963.1:c.529-1488_529-1487delinsCT	XP_011541265.1:n.529-1488_529-1487delinsCT
XM_011542964.1:c.529-1488_529-1487delinsCT	XP_011541266.1:n.529-1488_529-1487delinsCT
XM_011542963.3:c.529-1488_529-1487delinsCT	XP_011541265.1:n.529-1488_529-1487delinsCT
XM_017018169.2:c.217-1488_217-1487delinsCT	XP_016873658.1:n.217-1488_217-1487delinsCT
XM_017018170.2:c.3+87_3+88delinsCT	XP_016873659.1:n.3+87_3+88delinsCT
XM_017018171.1:c.529-1488_529-1487delinsCT	XP_016873660.1:n.529-1488_529-1487delinsCT
NM_003105.6:c.529-1488_529-1487delinsCT MANE Select	NP_003096.2:n.529-1488_529-1487delinsCT