Canonical Allele Identifier: CA918983283

Gene: SORL1

Linked Data

• dbSNP Id: rs1591310923
• gnomAD v4: 11-121522832-ATAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522836_121522838del , CM000673.2:g.121522836_121522838del	GRCh38
NC_000011.9:g.121393545_121393547del , CM000673.1:g.121393545_121393547del	GRCh37
NC_000011.8:g.120898755_120898757del	NCBI36
NG_023313.1:g.75585_75587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1523-80_1523-78del MANE Select	ENSP00000260197.6:n.1523-80_1523-78del
ENST00000260197.11:c.1523-80_1523-78del	ENSP00000260197.6:n.1523-80_1523-78del
ENST00000532451.1:n.1475-80_1475-78del
NM_003105.5:c.1523-80_1523-78del	NP_003096.1:n.1523-80_1523-78del
XM_011542963.1:c.1523-80_1523-78del	XP_011541265.1:n.1523-80_1523-78del
XM_011542964.1:c.1523-80_1523-78del	XP_011541266.1:n.1523-80_1523-78del
XM_011542965.1:c.-100-80_-100-78del	XP_011541267.1:n.-100-80_-100-78del
XM_011542963.3:c.1523-80_1523-78del	XP_011541265.1:n.1523-80_1523-78del
XM_011542965.3:c.-100-80_-100-78del	XP_011541267.1:n.-100-80_-100-78del
XM_017018169.2:c.1211-80_1211-78del	XP_016873658.1:n.1211-80_1211-78del
XM_017018170.2:c.998-80_998-78del	XP_016873659.1:n.998-80_998-78del
XM_017018171.1:c.1523-80_1523-78del	XP_016873660.1:n.1523-80_1523-78del
NM_003105.6:c.1523-80_1523-78del MANE Select	NP_003096.2:n.1523-80_1523-78del