Canonical Allele Identifier: CA2004916872

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121553012_121553023delinsCATTAGGTAAGT , CM000673.2:g.121553012_121553023delinsCATTAGGTAAGT	GRCh38
NC_000011.9:g.121423721_121423732delinsCATTAGGTAAGT , CM000673.1:g.121423721_121423732delinsCATTAGGTAAGT	GRCh37
NC_000011.8:g.120928931_120928942delinsCATTAGGTAAGT	NCBI36
NG_023313.1:g.105761_105772delinsCATTAGGTAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2267-925_2267-914delinsCATTAGGTAAGT MANE Select	ENSP00000260197.6:n.2267-925_2267-914delinsCATTAGGTAAGT
ENST00000260197.11:c.2267-925_2267-914delinsCATTAGGTAAGT	ENSP00000260197.6:n.2267-925_2267-914delinsCATTAGGTAAGT
NM_003105.5:c.2267-925_2267-914delinsCATTAGGTAAGT	NP_003096.1:n.2267-925_2267-914delinsCATTAGGTAAGT
XM_011542963.1:c.2267-925_2267-914delinsCATTAGGTAAGT	XP_011541265.1:n.2267-925_2267-914delinsCATTAGGTAAGT
XM_011542964.1:c.2267-925_2267-914delinsCATTAGGTAAGT	XP_011541266.1:n.2267-925_2267-914delinsCATTAGGTAAGT
XM_011542965.1:c.728-925_728-914delinsCATTAGGTAAGT	XP_011541267.1:n.728-925_728-914delinsCATTAGGTAAGT
XM_011542963.3:c.2267-925_2267-914delinsCATTAGGTAAGT	XP_011541265.1:n.2267-925_2267-914delinsCATTAGGTAAGT
XM_011542965.3:c.728-925_728-914delinsCATTAGGTAAGT	XP_011541267.1:n.728-925_728-914delinsCATTAGGTAAGT
XM_017018169.2:c.1955-925_1955-914delinsCATTAGGTAAGT	XP_016873658.1:n.1955-925_1955-914delinsCATTAGGTAAGT
XM_017018170.2:c.1742-925_1742-914delinsCATTAGGTAAGT	XP_016873659.1:n.1742-925_1742-914delinsCATTAGGTAAGT
XM_017018171.1:c.2267-925_2267-914delinsCATTAGGTAAGT	XP_016873660.1:n.2267-925_2267-914delinsCATTAGGTAAGT
XM_017018172.2:c.-282-925_-282-914delinsCATTAGGTAAGT	XP_016873661.1:n.-282-925_-282-914delinsCATTAGGTAAGT
NM_003105.6:c.2267-925_2267-914delinsCATTAGGTAAGT MANE Select	NP_003096.2:n.2267-925_2267-914delinsCATTAGGTAAGT