Canonical Allele Identifier: CA672592704

Gene: SORL1

Linked Data

• dbSNP Id: rs1382493184
• MyVariant Identifiers: chr11:g.121393322_121393323insC (hg19) ; chr11:g.121522613_121522614insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522614dup , CM000673.2:g.121522614dup	GRCh38
NC_000011.9:g.121393323dup , CM000673.1:g.121393323dup	GRCh37
NC_000011.8:g.120898533dup	NCBI36
NG_023313.1:g.75363dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1433dup MANE Select	ENSP00000260197.6:p.Gln479SerfsTer?
ENST00000260197.11:c.1433dup	ENSP00000260197.6:p.Gln479SerfsTer?
ENST00000532451.1:n.1385dup
NM_003105.5:c.1433dup	NP_003096.1:p.Gln479SerfsTer?
XM_011542963.1:c.1433dup	XP_011541265.1:p.Gln479SerfsTer?
XM_011542964.1:c.1433dup	XP_011541266.1:p.Gln479SerfsTer?
XM_011542965.1:c.-190dup	XP_011541267.1:n.-190dup
XM_011542963.3:c.1433dup	XP_011541265.1:p.Gln479SerfsTer?
XM_011542965.3:c.-190dup	XP_011541267.1:n.-190dup
XM_017018169.2:c.1121dup	XP_016873658.1:p.Gln375SerfsTer?
XM_017018170.2:c.908dup	XP_016873659.1:p.Gln304SerfsTer?
XM_017018171.1:c.1433dup	XP_016873660.1:p.Gln479SerfsTer?
NM_003105.6:c.1433dup MANE Select	NP_003096.2:p.Gln479SerfsTer?