Canonical Allele Identifier: CA672579824

Gene: SORL1

Linked Data

• dbSNP Id: rs1486975312
• MyVariant Identifiers: chr11:g.121367553_121367556del (hg19) ; chr11:g.121496844_121496847del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121496845_121496848del , CM000673.2:g.121496845_121496848del	GRCh38
NC_000011.9:g.121367554_121367557del , CM000673.1:g.121367554_121367557del	GRCh37
NC_000011.8:g.120872764_120872767del	NCBI36
NG_023313.1:g.49594_49597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.759-24_759-21del MANE Select	ENSP00000260197.6:n.759-24_759-21del
ENST00000260197.11:c.759-24_759-21del	ENSP00000260197.6:n.759-24_759-21del
ENST00000532451.1:n.711-24_711-21del
NM_003105.5:c.759-24_759-21del	NP_003096.1:n.759-24_759-21del
XM_011542963.1:c.759-24_759-21del	XP_011541265.1:n.759-24_759-21del
XM_011542964.1:c.759-24_759-21del	XP_011541266.1:n.759-24_759-21del
XM_011542963.3:c.759-24_759-21del	XP_011541265.1:n.759-24_759-21del
XM_017018169.2:c.447-24_447-21del	XP_016873658.1:n.447-24_447-21del
XM_017018170.2:c.234-24_234-21del	XP_016873659.1:n.234-24_234-21del
XM_017018171.1:c.759-24_759-21del	XP_016873660.1:n.759-24_759-21del
NM_003105.6:c.759-24_759-21del MANE Select	NP_003096.2:n.759-24_759-21del