Canonical Allele Identifier: CA2004894160

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121500079_121500081delinsTTG , CM000673.2:g.121500079_121500081delinsTTG	GRCh38
NC_000011.9:g.121370788_121370790delinsTTG , CM000673.1:g.121370788_121370790delinsTTG	GRCh37
NC_000011.8:g.120875998_120876000delinsTTG	NCBI36
NG_023313.1:g.52828_52830delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.939+3030_939+3032delinsTTG MANE Select	ENSP00000260197.6:n.939+3030_939+3032delinsTTG
ENST00000260197.11:c.939+3030_939+3032delinsTTG	ENSP00000260197.6:n.939+3030_939+3032delinsTTG
ENST00000532451.1:n.891+3030_891+3032delinsTTG
NM_003105.5:c.939+3030_939+3032delinsTTG	NP_003096.1:n.939+3030_939+3032delinsTTG
XM_011542963.1:c.939+3030_939+3032delinsTTG	XP_011541265.1:n.939+3030_939+3032delinsTTG
XM_011542964.1:c.939+3030_939+3032delinsTTG	XP_011541266.1:n.939+3030_939+3032delinsTTG
XM_011542963.3:c.939+3030_939+3032delinsTTG	XP_011541265.1:n.939+3030_939+3032delinsTTG
XM_011542965.3:c.-684+3030_-684+3032delinsTTG	XP_011541267.1:n.-684+3030_-684+3032delinsTTG
XM_017018169.2:c.627+3030_627+3032delinsTTG	XP_016873658.1:n.627+3030_627+3032delinsTTG
XM_017018170.2:c.414+3030_414+3032delinsTTG	XP_016873659.1:n.414+3030_414+3032delinsTTG
XM_017018171.1:c.939+3030_939+3032delinsTTG	XP_016873660.1:n.939+3030_939+3032delinsTTG
NM_003105.6:c.939+3030_939+3032delinsTTG MANE Select	NP_003096.2:n.939+3030_939+3032delinsTTG