Canonical Allele Identifier: CA2004947508

Gene: SORL1

Linked Data

• dbSNP Id: rs1862948619

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577369_121577373dup , CM000673.2:g.121577369_121577373dup	GRCh38
NC_000011.9:g.121448078_121448082dup , CM000673.1:g.121448078_121448082dup	GRCh37
NC_000011.8:g.120953288_120953292dup	NCBI36
NG_023313.1:g.130118_130122dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3549_3553dup MANE Select	ENSP00000260197.6:p.Asp1185AlafsTer?
ENST00000260197.11:c.3549_3553dup	ENSP00000260197.6:p.Asp1185AlafsTer?
ENST00000525532.5:c.381_385dup	ENSP00000434634.1:p.Asp129AlafsTer?
ENST00000532694.5:c.87_91dup	ENSP00000432131.1:p.Asp31AlafsTer?
ENST00000534286.5:c.279_283dup	ENSP00000436447.1:p.Asp95AlafsTer?
NM_003105.5:c.3549_3553dup	NP_003096.1:p.Asp1185AlafsTer?
XM_011542963.1:c.3435_3439dup	XP_011541265.1:p.Asp1147AlafsTer?
XM_011542964.1:c.3549_3553dup	XP_011541266.1:p.Asp1185AlafsTer?
XM_011542965.1:c.2010_2014dup	XP_011541267.1:p.Asp672AlafsTer?
XM_011542966.1:c.909_913dup	XP_011541268.1:p.Asp305AlafsTer?
XM_011542967.1:c.381_385dup	XP_011541269.1:p.Asp129AlafsTer?
XM_011542963.3:c.3435_3439dup	XP_011541265.1:p.Asp1147AlafsTer?
XM_011542965.3:c.2010_2014dup	XP_011541267.1:p.Asp672AlafsTer?
XM_011542967.3:c.381_385dup	XP_011541269.1:p.Asp129AlafsTer?
XM_017018169.2:c.3237_3241dup	XP_016873658.1:p.Asp1081AlafsTer?
XM_017018170.2:c.3024_3028dup	XP_016873659.1:p.Asp1010AlafsTer?
XM_017018171.1:c.3549_3553dup	XP_016873660.1:p.Asp1185AlafsTer?
XM_017018172.2:c.909_913dup	XP_016873661.1:p.Asp305AlafsTer?
NM_003105.6:c.3549_3553dup MANE Select	NP_003096.2:p.Asp1185AlafsTer?