Canonical Allele Identifier: CA2616499429

Gene: SORL1

Linked Data

• gnomAD v4: 11-121554080-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121554082del , CM000673.2:g.121554082del	GRCh38
NC_000011.9:g.121424791del , CM000673.1:g.121424791del	GRCh37
NC_000011.8:g.120930001del	NCBI36
NG_023313.1:g.106831del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2412del MANE Select	ENSP00000260197.6:p.Trp804CysfsTer14
ENST00000260197.11:c.2412del	ENSP00000260197.6:p.Trp804CysfsTer14
NM_003105.5:c.2412del	NP_003096.1:p.Trp804CysfsTer14
XM_011542963.1:c.2412del	XP_011541265.1:p.Trp804CysfsTer14
XM_011542964.1:c.2412del	XP_011541266.1:p.Trp804CysfsTer14
XM_011542965.1:c.873del	XP_011541267.1:p.Trp291CysfsTer14
XM_011542963.3:c.2412del	XP_011541265.1:p.Trp804CysfsTer14
XM_011542965.3:c.873del	XP_011541267.1:p.Trp291CysfsTer14
XM_017018169.2:c.2100del	XP_016873658.1:p.Trp700CysfsTer14
XM_017018170.2:c.1887del	XP_016873659.1:p.Trp629CysfsTer14
XM_017018171.1:c.2412del	XP_016873660.1:p.Trp804CysfsTer14
XM_017018172.2:c.-137del	XP_016873661.1:n.-137del
NM_003105.6:c.2412del MANE Select	NP_003096.2:p.Trp804CysfsTer14