Canonical Allele Identifier: CA6328461

Gene: SORL1

Linked Data

• dbSNP Id: rs1491398926
• ExAC: 11:121367556 CCT / C
• gnomAD v2: 11-121367556-CCT-C
• gnomAD v4: 11-121496847-CCT-C
• MyVariant Identifiers: chr11:g.121367557_121367558del (hg19) ; chr11:g.121496848_121496849del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121496848_121496849del , CM000673.2:g.121496848_121496849del	GRCh38
NC_000011.9:g.121367557_121367558del , CM000673.1:g.121367557_121367558del	GRCh37
NC_000011.8:g.120872767_120872768del	NCBI36
NG_023313.1:g.49597_49598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.759-21_759-20del MANE Select	ENSP00000260197.6:n.759-21_759-20del
ENST00000260197.11:c.759-21_759-20del	ENSP00000260197.6:n.759-21_759-20del
ENST00000532451.1:n.711-21_711-20del
NM_003105.5:c.759-21_759-20del	NP_003096.1:n.759-21_759-20del
XM_011542963.1:c.759-21_759-20del	XP_011541265.1:n.759-21_759-20del
XM_011542964.1:c.759-21_759-20del	XP_011541266.1:n.759-21_759-20del
XM_011542963.3:c.759-21_759-20del	XP_011541265.1:n.759-21_759-20del
XM_017018169.2:c.447-21_447-20del	XP_016873658.1:n.447-21_447-20del
XM_017018170.2:c.234-21_234-20del	XP_016873659.1:n.234-21_234-20del
XM_017018171.1:c.759-21_759-20del	XP_016873660.1:n.759-21_759-20del
NM_003105.6:c.759-21_759-20del MANE Select	NP_003096.2:n.759-21_759-20del