Canonical Allele Identifier: CA2540362444

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486505_121486506insAG , CM000673.2:g.121486505_121486506insAG	GRCh38
NC_000011.9:g.121357214_121357215insAG , CM000673.1:g.121357214_121357215insAG	GRCh37
NC_000011.8:g.120862424_120862425insAG	NCBI36
NG_023313.1:g.39254_39255insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1527_529-1526insAG MANE Select	ENSP00000260197.6:n.529-1527_529-1526insAG
ENST00000260197.11:c.529-1527_529-1526insAG	ENSP00000260197.6:n.529-1527_529-1526insAG
ENST00000532451.1:n.481-1527_481-1526insAG
NM_003105.5:c.529-1527_529-1526insAG	NP_003096.1:n.529-1527_529-1526insAG
XM_011542963.1:c.529-1527_529-1526insAG	XP_011541265.1:n.529-1527_529-1526insAG
XM_011542964.1:c.529-1527_529-1526insAG	XP_011541266.1:n.529-1527_529-1526insAG
XM_011542963.3:c.529-1527_529-1526insAG	XP_011541265.1:n.529-1527_529-1526insAG
XM_017018169.2:c.217-1527_217-1526insAG	XP_016873658.1:n.217-1527_217-1526insAG
XM_017018170.2:c.3+48_3+49insAG	XP_016873659.1:n.3+48_3+49insAG
XM_017018171.1:c.529-1527_529-1526insAG	XP_016873660.1:n.529-1527_529-1526insAG
NM_003105.6:c.529-1527_529-1526insAG MANE Select	NP_003096.2:n.529-1527_529-1526insAG