Canonical Allele Identifier: CA2843310405

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558834dup , CM000673.2:g.121558834dup	GRCh38
NC_000011.9:g.121429543dup , CM000673.1:g.121429543dup	GRCh37
NC_000011.8:g.120934753dup	NCBI36
NG_023313.1:g.111583dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2907dup MANE Select	ENSP00000260197.6:p.Lys970Ter
ENST00000260197.11:c.2907dup	ENSP00000260197.6:p.Lys970Ter
ENST00000529445.1:n.613dup
NM_003105.5:c.2907dup	NP_003096.1:p.Lys970Ter
XM_011542963.1:c.2907dup	XP_011541265.1:p.Lys970Ter
XM_011542964.1:c.2907dup	XP_011541266.1:p.Lys970Ter
XM_011542965.1:c.1368dup	XP_011541267.1:p.Lys457Ter
XM_011542966.1:c.267dup	XP_011541268.1:p.Lys90Ter
XM_011542963.3:c.2907dup	XP_011541265.1:p.Lys970Ter
XM_011542965.3:c.1368dup	XP_011541267.1:p.Lys457Ter
XM_017018169.2:c.2595dup	XP_016873658.1:p.Lys866Ter
XM_017018170.2:c.2382dup	XP_016873659.1:p.Lys795Ter
XM_017018171.1:c.2907dup	XP_016873660.1:p.Lys970Ter
XM_017018172.2:c.267dup	XP_016873661.1:p.Lys90Ter
NM_003105.6:c.2907dup MANE Select	NP_003096.2:p.Lys970Ter