Canonical Allele Identifier: CA2616496670

Gene: SORL1

Linked Data

• gnomAD v4: 11-121522463-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522467del , CM000673.2:g.121522467del	GRCh38
NC_000011.9:g.121393176del , CM000673.1:g.121393176del	GRCh37
NC_000011.8:g.120898386del	NCBI36
NG_023313.1:g.75216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1405-119del MANE Select	ENSP00000260197.6:n.1405-119del
ENST00000260197.11:c.1405-119del	ENSP00000260197.6:n.1405-119del
ENST00000532451.1:n.1357-119del
NM_003105.5:c.1405-119del	NP_003096.1:n.1405-119del
XM_011542963.1:c.1405-119del	XP_011541265.1:n.1405-119del
XM_011542964.1:c.1405-119del	XP_011541266.1:n.1405-119del
XM_011542965.1:c.-218-119del	XP_011541267.1:n.-218-119del
XM_011542963.3:c.1405-119del	XP_011541265.1:n.1405-119del
XM_011542965.3:c.-218-119del	XP_011541267.1:n.-218-119del
XM_017018169.2:c.1093-119del	XP_016873658.1:n.1093-119del
XM_017018170.2:c.880-119del	XP_016873659.1:n.880-119del
XM_017018171.1:c.1405-119del	XP_016873660.1:n.1405-119del
NM_003105.6:c.1405-119del MANE Select	NP_003096.2:n.1405-119del