Canonical Allele Identifier: CA2504740848

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558623del , CM000673.2:g.121558623del	GRCh38
NC_000011.9:g.121429332del , CM000673.1:g.121429332del	GRCh37
NC_000011.8:g.120934542del	NCBI36
NG_023313.1:g.111372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2696del MANE Select	ENSP00000260197.6:p.Lys899SerfsTer22
ENST00000260197.11:c.2696del	ENSP00000260197.6:p.Lys899SerfsTer22
ENST00000524873.1:n.424del
ENST00000529445.1:n.402del
NM_003105.5:c.2696del	NP_003096.1:p.Lys899SerfsTer22
XM_011542963.1:c.2696del	XP_011541265.1:p.Lys899SerfsTer22
XM_011542964.1:c.2696del	XP_011541266.1:p.Lys899SerfsTer22
XM_011542965.1:c.1157del	XP_011541267.1:p.Lys386SerfsTer22
XM_011542966.1:c.56del	XP_011541268.1:p.Lys19SerfsTer22
XM_011542963.3:c.2696del	XP_011541265.1:p.Lys899SerfsTer22
XM_011542965.3:c.1157del	XP_011541267.1:p.Lys386SerfsTer22
XM_017018169.2:c.2384del	XP_016873658.1:p.Lys795SerfsTer22
XM_017018170.2:c.2171del	XP_016873659.1:p.Lys724SerfsTer22
XM_017018171.1:c.2696del	XP_016873660.1:p.Lys899SerfsTer22
XM_017018172.2:c.56del	XP_016873661.1:p.Lys19SerfsTer22
NM_003105.6:c.2696del MANE Select	NP_003096.2:p.Lys899SerfsTer22