Canonical Allele Identifier: CA2004883529

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486474_121486476delinsTTC , CM000673.2:g.121486474_121486476delinsTTC	GRCh38
NC_000011.9:g.121357183_121357185delinsTTC , CM000673.1:g.121357183_121357185delinsTTC	GRCh37
NC_000011.8:g.120862393_120862395delinsTTC	NCBI36
NG_023313.1:g.39223_39225delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1558_529-1556delinsTTC MANE Select	ENSP00000260197.6:n.529-1558_529-1556delinsTTC
ENST00000260197.11:c.529-1558_529-1556delinsTTC	ENSP00000260197.6:n.529-1558_529-1556delinsTTC
ENST00000532451.1:n.481-1558_481-1556delinsTTC
NM_003105.5:c.529-1558_529-1556delinsTTC	NP_003096.1:n.529-1558_529-1556delinsTTC
XM_011542963.1:c.529-1558_529-1556delinsTTC	XP_011541265.1:n.529-1558_529-1556delinsTTC
XM_011542964.1:c.529-1558_529-1556delinsTTC	XP_011541266.1:n.529-1558_529-1556delinsTTC
XM_011542963.3:c.529-1558_529-1556delinsTTC	XP_011541265.1:n.529-1558_529-1556delinsTTC
XM_017018169.2:c.217-1558_217-1556delinsTTC	XP_016873658.1:n.217-1558_217-1556delinsTTC
XM_017018170.2:c.3+17_3+19delinsTTC	XP_016873659.1:n.3+17_3+19delinsTTC
XM_017018171.1:c.529-1558_529-1556delinsTTC	XP_016873660.1:n.529-1558_529-1556delinsTTC
NM_003105.6:c.529-1558_529-1556delinsTTC MANE Select	NP_003096.2:n.529-1558_529-1556delinsTTC