Canonical Allele Identifier: CA2616496644

Gene: SORL1

Linked Data

• gnomAD v4: 11-121522445-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522448del , CM000673.2:g.121522448del	GRCh38
NC_000011.9:g.121393157del , CM000673.1:g.121393157del	GRCh37
NC_000011.8:g.120898367del	NCBI36
NG_023313.1:g.75197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1405-138del MANE Select	ENSP00000260197.6:n.1405-138del
ENST00000260197.11:c.1405-138del	ENSP00000260197.6:n.1405-138del
ENST00000532451.1:n.1357-138del
NM_003105.5:c.1405-138del	NP_003096.1:n.1405-138del
XM_011542963.1:c.1405-138del	XP_011541265.1:n.1405-138del
XM_011542964.1:c.1405-138del	XP_011541266.1:n.1405-138del
XM_011542965.1:c.-218-138del	XP_011541267.1:n.-218-138del
XM_011542963.3:c.1405-138del	XP_011541265.1:n.1405-138del
XM_011542965.3:c.-218-138del	XP_011541267.1:n.-218-138del
XM_017018169.2:c.1093-138del	XP_016873658.1:n.1093-138del
XM_017018170.2:c.880-138del	XP_016873659.1:n.880-138del
XM_017018171.1:c.1405-138del	XP_016873660.1:n.1405-138del
NM_003105.6:c.1405-138del MANE Select	NP_003096.2:n.1405-138del