Canonical Allele Identifier: CA2004919320

Gene: SORL1

Linked Data

• dbSNP Id: rs1862628809

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558673dup , CM000673.2:g.121558673dup	GRCh38
NC_000011.9:g.121429382dup , CM000673.1:g.121429382dup	GRCh37
NC_000011.8:g.120934592dup	NCBI36
NG_023313.1:g.111422dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2746dup MANE Select	ENSP00000260197.6:p.Val916GlyfsTer3
ENST00000260197.11:c.2746dup	ENSP00000260197.6:p.Val916GlyfsTer3
ENST00000524873.1:n.474dup
ENST00000529445.1:n.452dup
NM_003105.5:c.2746dup	NP_003096.1:p.Val916GlyfsTer3
XM_011542963.1:c.2746dup	XP_011541265.1:p.Val916GlyfsTer3
XM_011542964.1:c.2746dup	XP_011541266.1:p.Val916GlyfsTer3
XM_011542965.1:c.1207dup	XP_011541267.1:p.Val403GlyfsTer3
XM_011542966.1:c.106dup	XP_011541268.1:p.Val36GlyfsTer3
XM_011542963.3:c.2746dup	XP_011541265.1:p.Val916GlyfsTer3
XM_011542965.3:c.1207dup	XP_011541267.1:p.Val403GlyfsTer3
XM_017018169.2:c.2434dup	XP_016873658.1:p.Val812GlyfsTer3
XM_017018170.2:c.2221dup	XP_016873659.1:p.Val741GlyfsTer3
XM_017018171.1:c.2746dup	XP_016873660.1:p.Val916GlyfsTer3
XM_017018172.2:c.106dup	XP_016873661.1:p.Val36GlyfsTer3
NM_003105.6:c.2746dup MANE Select	NP_003096.2:p.Val916GlyfsTer3