Canonical Allele Identifier: CA2004947645

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577700_121577703delinsTCGG , CM000673.2:g.121577700_121577703delinsTCGG	GRCh38
NC_000011.9:g.121448409_121448412delinsTCGG , CM000673.1:g.121448409_121448412delinsTCGG	GRCh37
NC_000011.8:g.120953619_120953622delinsTCGG	NCBI36
NG_023313.1:g.130449_130452delinsTCGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3580+300_3580+303delinsTCGG MANE Select	ENSP00000260197.6:n.3580+300_3580+303delinsTCGG
ENST00000260197.11:c.3580+300_3580+303delinsTCGG	ENSP00000260197.6:n.3580+300_3580+303delinsTCGG
ENST00000525532.5:c.412+300_412+303delinsTCGG	ENSP00000434634.1:n.412+300_412+303delinsTCGG
ENST00000532694.5:c.118+300_118+303delinsTCGG	ENSP00000432131.1:n.118+300_118+303delinsTCGG
ENST00000534286.5:c.310+300_310+303delinsTCGG	ENSP00000436447.1:n.310+300_310+303delinsTCGG
NM_003105.5:c.3580+300_3580+303delinsTCGG	NP_003096.1:n.3580+300_3580+303delinsTCGG
XM_011542963.1:c.3466+300_3466+303delinsTCGG	XP_011541265.1:n.3466+300_3466+303delinsTCGG
XM_011542964.1:c.3580+300_3580+303delinsTCGG	XP_011541266.1:n.3580+300_3580+303delinsTCGG
XM_011542965.1:c.2041+300_2041+303delinsTCGG	XP_011541267.1:n.2041+300_2041+303delinsTCGG
XM_011542966.1:c.940+300_940+303delinsTCGG	XP_011541268.1:n.940+300_940+303delinsTCGG
XM_011542967.1:c.412+300_412+303delinsTCGG	XP_011541269.1:n.412+300_412+303delinsTCGG
XM_011542963.3:c.3466+300_3466+303delinsTCGG	XP_011541265.1:n.3466+300_3466+303delinsTCGG
XM_011542965.3:c.2041+300_2041+303delinsTCGG	XP_011541267.1:n.2041+300_2041+303delinsTCGG
XM_011542967.3:c.412+300_412+303delinsTCGG	XP_011541269.1:n.412+300_412+303delinsTCGG
XM_017018169.2:c.3268+300_3268+303delinsTCGG	XP_016873658.1:n.3268+300_3268+303delinsTCGG
XM_017018170.2:c.3055+300_3055+303delinsTCGG	XP_016873659.1:n.3055+300_3055+303delinsTCGG
XM_017018171.1:c.3580+300_3580+303delinsTCGG	XP_016873660.1:n.3580+300_3580+303delinsTCGG
XM_017018172.2:c.940+300_940+303delinsTCGG	XP_016873661.1:n.940+300_940+303delinsTCGG
NM_003105.6:c.3580+300_3580+303delinsTCGG MANE Select	NP_003096.2:n.3580+300_3580+303delinsTCGG