Canonical Allele Identifier: CA2004894318

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121500484_121500487delinsTGAA , CM000673.2:g.121500484_121500487delinsTGAA	GRCh38
NC_000011.9:g.121371193_121371196delinsTGAA , CM000673.1:g.121371193_121371196delinsTGAA	GRCh37
NC_000011.8:g.120876403_120876406delinsTGAA	NCBI36
NG_023313.1:g.53233_53236delinsTGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.939+3435_939+3438delinsTGAA MANE Select	ENSP00000260197.6:n.939+3435_939+3438deli...
ENST00000260197.11:c.939+3435_939+3438delinsTGAA	ENSP00000260197.6:n.939+3435_939+3438deli...
ENST00000532451.1:n.891+3435_891+3438delinsTGAA
NM_003105.5:c.939+3435_939+3438delinsTGAA	NP_003096.1:n.939+3435_939+3438delinsTGAA...
XM_011542963.1:c.939+3435_939+3438delinsTGAA	XP_011541265.1:n.939+3435_939+3438delinsT...
XM_011542964.1:c.939+3435_939+3438delinsTGAA	XP_011541266.1:n.939+3435_939+3438delinsT...
XM_011542963.3:c.939+3435_939+3438delinsTGAA	XP_011541265.1:n.939+3435_939+3438delinsT...
XM_011542965.3:c.-684+3435_-684+3438delinsTGAA	XP_011541267.1:n.-684+3435_-684+3438delin...
XM_017018169.2:c.627+3435_627+3438delinsTGAA	XP_016873658.1:n.627+3435_627+3438delinsT...
XM_017018170.2:c.414+3435_414+3438delinsTGAA	XP_016873659.1:n.414+3435_414+3438delinsT...
XM_017018171.1:c.939+3435_939+3438delinsTGAA	XP_016873660.1:n.939+3435_939+3438delinsT...
NM_003105.6:c.939+3435_939+3438delinsTGAA MANE Select	NP_003096.2:n.939+3435_939+3438delinsTGAA...