Canonical Allele Identifier: CA942953885

Gene: SORL1

Linked Data

• dbSNP Id: rs1861770147
• gnomAD v3: 11-121505219-G-GGTTATT
• gnomAD v4: 11-121505219-G-GGTTATT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121505220_121505225dup , CM000673.2:g.121505220_121505225dup	GRCh38
NC_000011.9:g.121375929_121375934dup , CM000673.1:g.121375929_121375934dup	GRCh37
NC_000011.8:g.120881139_120881144dup	NCBI36
NG_023313.1:g.57969_57974dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.940-7783_940-7778dup MANE Select	ENSP00000260197.6:n.940-7783_940-7778dup
ENST00000260197.11:c.940-7783_940-7778dup	ENSP00000260197.6:n.940-7783_940-7778dup
ENST00000532451.1:n.892-7783_892-7778dup
NM_003105.5:c.940-7783_940-7778dup	NP_003096.1:n.940-7783_940-7778dup
XM_011542963.1:c.940-7783_940-7778dup	XP_011541265.1:n.940-7783_940-7778dup
XM_011542964.1:c.940-7783_940-7778dup	XP_011541266.1:n.940-7783_940-7778dup
XM_011542963.3:c.940-7783_940-7778dup	XP_011541265.1:n.940-7783_940-7778dup
XM_011542965.3:c.-683-7783_-683-7778dup	XP_011541267.1:n.-683-7783_-683-7778dup
XM_017018169.2:c.628-7783_628-7778dup	XP_016873658.1:n.628-7783_628-7778dup
XM_017018170.2:c.415-7783_415-7778dup	XP_016873659.1:n.415-7783_415-7778dup
XM_017018171.1:c.940-7783_940-7778dup	XP_016873660.1:n.940-7783_940-7778dup
NM_003105.6:c.940-7783_940-7778dup MANE Select	NP_003096.2:n.940-7783_940-7778dup