Canonical Allele Identifier: CA942950923

Gene: SORL1

Linked Data

• dbSNP Id: rs1861694290
• gnomAD v3: 11-121500484-TGAA-T
• gnomAD v4: 11-121500484-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121500486_121500488del , CM000673.2:g.121500486_121500488del	GRCh38
NC_000011.9:g.121371195_121371197del , CM000673.1:g.121371195_121371197del	GRCh37
NC_000011.8:g.120876405_120876407del	NCBI36
NG_023313.1:g.53235_53237del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.939+3437_939+3439del MANE Select	ENSP00000260197.6:n.939+3437_939+3439del
ENST00000260197.11:c.939+3437_939+3439del	ENSP00000260197.6:n.939+3437_939+3439del
ENST00000532451.1:n.891+3437_891+3439del
NM_003105.5:c.939+3437_939+3439del	NP_003096.1:n.939+3437_939+3439del
XM_011542963.1:c.939+3437_939+3439del	XP_011541265.1:n.939+3437_939+3439del
XM_011542964.1:c.939+3437_939+3439del	XP_011541266.1:n.939+3437_939+3439del
XM_011542963.3:c.939+3437_939+3439del	XP_011541265.1:n.939+3437_939+3439del
XM_011542965.3:c.-684+3437_-684+3439del	XP_011541267.1:n.-684+3437_-684+3439del
XM_017018169.2:c.627+3437_627+3439del	XP_016873658.1:n.627+3437_627+3439del
XM_017018170.2:c.414+3437_414+3439del	XP_016873659.1:n.414+3437_414+3439del
XM_017018171.1:c.939+3437_939+3439del	XP_016873660.1:n.939+3437_939+3439del
NM_003105.6:c.939+3437_939+3439del MANE Select	NP_003096.2:n.939+3437_939+3439del