Canonical Allele Identifier: CA2004883522

Gene: SORL1

Linked Data

• dbSNP Id: rs1861473191
• gnomAD v3: 11-121486468-G-GTTTC
• gnomAD v4: 11-121486468-G-GTTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486480_121486483dup , CM000673.2:g.121486480_121486483dup	GRCh38
NC_000011.9:g.121357189_121357192dup , CM000673.1:g.121357189_121357192dup	GRCh37
NC_000011.8:g.120862399_120862402dup	NCBI36
NG_023313.1:g.39229_39232dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1552_529-1549dup MANE Select	ENSP00000260197.6:n.529-1552_529-1549dup
ENST00000260197.11:c.529-1552_529-1549dup	ENSP00000260197.6:n.529-1552_529-1549dup
ENST00000532451.1:n.481-1552_481-1549dup
NM_003105.5:c.529-1552_529-1549dup	NP_003096.1:n.529-1552_529-1549dup
XM_011542963.1:c.529-1552_529-1549dup	XP_011541265.1:n.529-1552_529-1549dup
XM_011542964.1:c.529-1552_529-1549dup	XP_011541266.1:n.529-1552_529-1549dup
XM_011542963.3:c.529-1552_529-1549dup	XP_011541265.1:n.529-1552_529-1549dup
XM_017018169.2:c.217-1552_217-1549dup	XP_016873658.1:n.217-1552_217-1549dup
XM_017018170.2:c.3+23_3+26dup	XP_016873659.1:n.3+23_3+26dup
XM_017018171.1:c.529-1552_529-1549dup	XP_016873660.1:n.529-1552_529-1549dup
NM_003105.6:c.529-1552_529-1549dup MANE Select	NP_003096.2:n.529-1552_529-1549dup