Canonical Allele Identifier: CA2004896358

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121505279_121505281delinsGTT , CM000673.2:g.121505279_121505281delinsGTT	GRCh38
NC_000011.9:g.121375988_121375990delinsGTT , CM000673.1:g.121375988_121375990delinsGTT	GRCh37
NC_000011.8:g.120881198_120881200delinsGTT	NCBI36
NG_023313.1:g.58028_58030delinsGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.940-7724_940-7722delinsGTT MANE Select	ENSP00000260197.6:n.940-7724_940-7722deli...
ENST00000260197.11:c.940-7724_940-7722delinsGTT	ENSP00000260197.6:n.940-7724_940-7722deli...
ENST00000532451.1:n.892-7724_892-7722delinsGTT
NM_003105.5:c.940-7724_940-7722delinsGTT	NP_003096.1:n.940-7724_940-7722delinsGTT
XM_011542963.1:c.940-7724_940-7722delinsGTT	XP_011541265.1:n.940-7724_940-7722delinsG...
XM_011542964.1:c.940-7724_940-7722delinsGTT	XP_011541266.1:n.940-7724_940-7722delinsG...
XM_011542963.3:c.940-7724_940-7722delinsGTT	XP_011541265.1:n.940-7724_940-7722delinsG...
XM_011542965.3:c.-683-7724_-683-7722delinsGTT	XP_011541267.1:n.-683-7724_-683-7722delin...
XM_017018169.2:c.628-7724_628-7722delinsGTT	XP_016873658.1:n.628-7724_628-7722delinsG...
XM_017018170.2:c.415-7724_415-7722delinsGTT	XP_016873659.1:n.415-7724_415-7722delinsG...
XM_017018171.1:c.940-7724_940-7722delinsGTT	XP_016873660.1:n.940-7724_940-7722delinsG...
NM_003105.6:c.940-7724_940-7722delinsGTT MANE Select	NP_003096.2:n.940-7724_940-7722delinsGTT