Canonical Allele Identifier: CA2004883640

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486554_121486555delinsAC , CM000673.2:g.121486554_121486555delinsAC	GRCh38
NC_000011.9:g.121357263_121357264delinsAC , CM000673.1:g.121357263_121357264delinsAC	GRCh37
NC_000011.8:g.120862473_120862474delinsAC	NCBI36
NG_023313.1:g.39303_39304delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1478_529-1477delinsAC MANE Select	ENSP00000260197.6:n.529-1478_529-1477delinsAC
ENST00000260197.11:c.529-1478_529-1477delinsAC	ENSP00000260197.6:n.529-1478_529-1477delinsAC
ENST00000532451.1:n.481-1478_481-1477delinsAC
NM_003105.5:c.529-1478_529-1477delinsAC	NP_003096.1:n.529-1478_529-1477delinsAC
XM_011542963.1:c.529-1478_529-1477delinsAC	XP_011541265.1:n.529-1478_529-1477delinsAC
XM_011542964.1:c.529-1478_529-1477delinsAC	XP_011541266.1:n.529-1478_529-1477delinsAC
XM_011542963.3:c.529-1478_529-1477delinsAC	XP_011541265.1:n.529-1478_529-1477delinsAC
XM_017018169.2:c.217-1478_217-1477delinsAC	XP_016873658.1:n.217-1478_217-1477delinsAC
XM_017018170.2:c.3+97_3+98delinsAC	XP_016873659.1:n.3+97_3+98delinsAC
XM_017018171.1:c.529-1478_529-1477delinsAC	XP_016873660.1:n.529-1478_529-1477delinsAC
NM_003105.6:c.529-1478_529-1477delinsAC MANE Select	NP_003096.2:n.529-1478_529-1477delinsAC