Canonical Allele Identifier: CA2616496771

Gene: SORL1

Linked Data

• gnomAD v4: 11-121522555-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522556del , CM000673.2:g.121522556del	GRCh38
NC_000011.9:g.121393265del , CM000673.1:g.121393265del	GRCh37
NC_000011.8:g.120898475del	NCBI36
NG_023313.1:g.75305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1405-30del MANE Select	ENSP00000260197.6:n.1405-30del
ENST00000260197.11:c.1405-30del	ENSP00000260197.6:n.1405-30del
ENST00000532451.1:n.1357-30del
NM_003105.5:c.1405-30del	NP_003096.1:n.1405-30del
XM_011542963.1:c.1405-30del	XP_011541265.1:n.1405-30del
XM_011542964.1:c.1405-30del	XP_011541266.1:n.1405-30del
XM_011542965.1:c.-218-30del	XP_011541267.1:n.-218-30del
XM_011542963.3:c.1405-30del	XP_011541265.1:n.1405-30del
XM_011542965.3:c.-218-30del	XP_011541267.1:n.-218-30del
XM_017018169.2:c.1093-30del	XP_016873658.1:n.1093-30del
XM_017018170.2:c.880-30del	XP_016873659.1:n.880-30del
XM_017018171.1:c.1405-30del	XP_016873660.1:n.1405-30del
NM_003105.6:c.1405-30del MANE Select	NP_003096.2:n.1405-30del