Canonical Allele Identifier: CA2004892365

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121496848_121496851delinsCTTT , CM000673.2:g.121496848_121496851delinsCTTT	GRCh38
NC_000011.9:g.121367557_121367560delinsCTTT , CM000673.1:g.121367557_121367560delinsCTTT	GRCh37
NC_000011.8:g.120872767_120872770delinsCTTT	NCBI36
NG_023313.1:g.49597_49600delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.759-21_759-18delinsCTTT MANE Select	ENSP00000260197.6:n.759-21_759-18delinsCTTT
ENST00000260197.11:c.759-21_759-18delinsCTTT	ENSP00000260197.6:n.759-21_759-18delinsCTTT
ENST00000532451.1:n.711-21_711-18delinsCTTT
NM_003105.5:c.759-21_759-18delinsCTTT	NP_003096.1:n.759-21_759-18delinsCTTT
XM_011542963.1:c.759-21_759-18delinsCTTT	XP_011541265.1:n.759-21_759-18delinsCTTT
XM_011542964.1:c.759-21_759-18delinsCTTT	XP_011541266.1:n.759-21_759-18delinsCTTT
XM_011542963.3:c.759-21_759-18delinsCTTT	XP_011541265.1:n.759-21_759-18delinsCTTT
XM_017018169.2:c.447-21_447-18delinsCTTT	XP_016873658.1:n.447-21_447-18delinsCTTT
XM_017018170.2:c.234-21_234-18delinsCTTT	XP_016873659.1:n.234-21_234-18delinsCTTT
XM_017018171.1:c.759-21_759-18delinsCTTT	XP_016873660.1:n.759-21_759-18delinsCTTT
NM_003105.6:c.759-21_759-18delinsCTTT MANE Select	NP_003096.2:n.759-21_759-18delinsCTTT