Canonical Allele Identifier: CA2004886892

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121490358_121490359delinsAC , CM000673.2:g.121490358_121490359delinsAC	GRCh38
NC_000011.9:g.121361067_121361068delinsAC , CM000673.1:g.121361067_121361068delinsAC	GRCh37
NC_000011.8:g.120866277_120866278delinsAC	NCBI36
NG_023313.1:g.43107_43108delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.758+248_758+249delinsAC MANE Select	ENSP00000260197.6:n.758+248_758+249delinsAC
ENST00000260197.11:c.758+248_758+249delinsAC	ENSP00000260197.6:n.758+248_758+249delinsAC
ENST00000532451.1:n.710+248_710+249delinsAC
NM_003105.5:c.758+248_758+249delinsAC	NP_003096.1:n.758+248_758+249delinsAC
XM_011542963.1:c.758+248_758+249delinsAC	XP_011541265.1:n.758+248_758+249delinsAC
XM_011542964.1:c.758+248_758+249delinsAC	XP_011541266.1:n.758+248_758+249delinsAC
XM_011542963.3:c.758+248_758+249delinsAC	XP_011541265.1:n.758+248_758+249delinsAC
XM_017018169.2:c.446+248_446+249delinsAC	XP_016873658.1:n.446+248_446+249delinsAC
XM_017018170.2:c.233+248_233+249delinsAC	XP_016873659.1:n.233+248_233+249delinsAC
XM_017018171.1:c.758+248_758+249delinsAC	XP_016873660.1:n.758+248_758+249delinsAC
NM_003105.6:c.758+248_758+249delinsAC MANE Select	NP_003096.2:n.758+248_758+249delinsAC