Canonical Allele Identifier: CA2580083719

Gene: SORL1

Linked Data

• ClinVar Variation Id: 1945559
• ClinVar RCV Id: RCV002667244

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577380_121577381delinsTG , CM000673.2:g.121577380_121577381delinsTG	GRCh38
NC_000011.9:g.121448089_121448090delinsTG , CM000673.1:g.121448089_121448090delinsTG	GRCh37
NC_000011.8:g.120953299_120953300delinsTG	NCBI36
NG_023313.1:g.130129_130130delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3560_3561delinsTG MANE Select	ENSP00000260197.6:p.Ser1187Leu
ENST00000260197.11:c.3560_3561delinsTG	ENSP00000260197.6:p.Ser1187Leu
ENST00000525532.5:c.392_393delinsTG	ENSP00000434634.1:p.Ser131Leu
ENST00000532694.5:c.98_99delinsTG	ENSP00000432131.1:p.Ser33Leu
ENST00000534286.5:c.290_291delinsTG	ENSP00000436447.1:p.Ser97Leu
NM_003105.5:c.3560_3561delinsTG	NP_003096.1:p.Ser1187Leu
XM_011542963.1:c.3446_3447delinsTG	XP_011541265.1:p.Ser1149Leu
XM_011542964.1:c.3560_3561delinsTG	XP_011541266.1:p.Ser1187Leu
XM_011542965.1:c.2021_2022delinsTG	XP_011541267.1:p.Ser674Leu
XM_011542966.1:c.920_921delinsTG	XP_011541268.1:p.Ser307Leu
XM_011542967.1:c.392_393delinsTG	XP_011541269.1:p.Ser131Leu
XM_011542963.3:c.3446_3447delinsTG	XP_011541265.1:p.Ser1149Leu
XM_011542965.3:c.2021_2022delinsTG	XP_011541267.1:p.Ser674Leu
XM_011542967.3:c.392_393delinsTG	XP_011541269.1:p.Ser131Leu
XM_017018169.2:c.3248_3249delinsTG	XP_016873658.1:p.Ser1083Leu
XM_017018170.2:c.3035_3036delinsTG	XP_016873659.1:p.Ser1012Leu
XM_017018171.1:c.3560_3561delinsTG	XP_016873660.1:p.Ser1187Leu
XM_017018172.2:c.920_921delinsTG	XP_016873661.1:p.Ser307Leu
NM_003105.6:c.3560_3561delinsTG MANE Select	NP_003096.2:p.Ser1187Leu