Canonical Allele Identifier: CA2004916815

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121552858_121552859delinsTC , CM000673.2:g.121552858_121552859delinsTC	GRCh38
NC_000011.9:g.121423567_121423568delinsTC , CM000673.1:g.121423567_121423568delinsTC	GRCh37
NC_000011.8:g.120928777_120928778delinsTC	NCBI36
NG_023313.1:g.105607_105608delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2267-1079_2267-1078delinsTC MANE Select	ENSP00000260197.6:n.2267-1079_2267-1078delinsTC
ENST00000260197.11:c.2267-1079_2267-1078delinsTC	ENSP00000260197.6:n.2267-1079_2267-1078delinsTC
NM_003105.5:c.2267-1079_2267-1078delinsTC	NP_003096.1:n.2267-1079_2267-1078delinsTC
XM_011542963.1:c.2267-1079_2267-1078delinsTC	XP_011541265.1:n.2267-1079_2267-1078delinsTC
XM_011542964.1:c.2267-1079_2267-1078delinsTC	XP_011541266.1:n.2267-1079_2267-1078delinsTC
XM_011542965.1:c.728-1079_728-1078delinsTC	XP_011541267.1:n.728-1079_728-1078delinsTC
XM_011542963.3:c.2267-1079_2267-1078delinsTC	XP_011541265.1:n.2267-1079_2267-1078delinsTC
XM_011542965.3:c.728-1079_728-1078delinsTC	XP_011541267.1:n.728-1079_728-1078delinsTC
XM_017018169.2:c.1955-1079_1955-1078delinsTC	XP_016873658.1:n.1955-1079_1955-1078delinsTC
XM_017018170.2:c.1742-1079_1742-1078delinsTC	XP_016873659.1:n.1742-1079_1742-1078delinsTC
XM_017018171.1:c.2267-1079_2267-1078delinsTC	XP_016873660.1:n.2267-1079_2267-1078delinsTC
XM_017018172.2:c.-282-1079_-282-1078delinsTC	XP_016873661.1:n.-282-1079_-282-1078delinsTC
NM_003105.6:c.2267-1079_2267-1078delinsTC MANE Select	NP_003096.2:n.2267-1079_2267-1078delinsTC