Canonical Allele Identifier: CA2004910317

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522449_121522451delinsCTG , CM000673.2:g.121522449_121522451delinsCTG	GRCh38
NC_000011.9:g.121393158_121393160delinsCTG , CM000673.1:g.121393158_121393160delinsCTG	GRCh37
NC_000011.8:g.120898368_120898370delinsCTG	NCBI36
NG_023313.1:g.75198_75200delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1405-137_1405-135delinsCTG MANE Select	ENSP00000260197.6:n.1405-137_1405-135delinsCTG
ENST00000260197.11:c.1405-137_1405-135delinsCTG	ENSP00000260197.6:n.1405-137_1405-135delinsCTG
ENST00000532451.1:n.1357-137_1357-135delinsCTG
NM_003105.5:c.1405-137_1405-135delinsCTG	NP_003096.1:n.1405-137_1405-135delinsCTG
XM_011542963.1:c.1405-137_1405-135delinsCTG	XP_011541265.1:n.1405-137_1405-135delinsCTG
XM_011542964.1:c.1405-137_1405-135delinsCTG	XP_011541266.1:n.1405-137_1405-135delinsCTG
XM_011542965.1:c.-218-137_-218-135delinsCTG	XP_011541267.1:n.-218-137_-218-135delinsCTG
XM_011542963.3:c.1405-137_1405-135delinsCTG	XP_011541265.1:n.1405-137_1405-135delinsCTG
XM_011542965.3:c.-218-137_-218-135delinsCTG	XP_011541267.1:n.-218-137_-218-135delinsCTG
XM_017018169.2:c.1093-137_1093-135delinsCTG	XP_016873658.1:n.1093-137_1093-135delinsCTG
XM_017018170.2:c.880-137_880-135delinsCTG	XP_016873659.1:n.880-137_880-135delinsCTG
XM_017018171.1:c.1405-137_1405-135delinsCTG	XP_016873660.1:n.1405-137_1405-135delinsCTG
NM_003105.6:c.1405-137_1405-135delinsCTG MANE Select	NP_003096.2:n.1405-137_1405-135delinsCTG