Canonical Allele Identifier: CA2004886951

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121490418_121490419delinsTA , CM000673.2:g.121490418_121490419delinsTA	GRCh38
NC_000011.9:g.121361127_121361128delinsTA , CM000673.1:g.121361127_121361128delinsTA	GRCh37
NC_000011.8:g.120866337_120866338delinsTA	NCBI36
NG_023313.1:g.43167_43168delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.758+308_758+309delinsTA MANE Select	ENSP00000260197.6:n.758+308_758+309delinsTA
ENST00000260197.11:c.758+308_758+309delinsTA	ENSP00000260197.6:n.758+308_758+309delinsTA
ENST00000532451.1:n.710+308_710+309delinsTA
NM_003105.5:c.758+308_758+309delinsTA	NP_003096.1:n.758+308_758+309delinsTA
XM_011542963.1:c.758+308_758+309delinsTA	XP_011541265.1:n.758+308_758+309delinsTA
XM_011542964.1:c.758+308_758+309delinsTA	XP_011541266.1:n.758+308_758+309delinsTA
XM_011542963.3:c.758+308_758+309delinsTA	XP_011541265.1:n.758+308_758+309delinsTA
XM_017018169.2:c.446+308_446+309delinsTA	XP_016873658.1:n.446+308_446+309delinsTA
XM_017018170.2:c.233+308_233+309delinsTA	XP_016873659.1:n.233+308_233+309delinsTA
XM_017018171.1:c.758+308_758+309delinsTA	XP_016873660.1:n.758+308_758+309delinsTA
NM_003105.6:c.758+308_758+309delinsTA MANE Select	NP_003096.2:n.758+308_758+309delinsTA