Canonical Allele Identifier: CA2562993535

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522937del , CM000673.2:g.121522937del	GRCh38
NC_000011.9:g.121393646del , CM000673.1:g.121393646del	GRCh37
NC_000011.8:g.120898856del	NCBI36
NG_023313.1:g.75686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1544del MANE Select	ENSP00000260197.6:p.Ala515ValfsTer?
ENST00000260197.11:c.1544del	ENSP00000260197.6:p.Ala515ValfsTer?
ENST00000532451.1:n.1496del
NM_003105.5:c.1544del	NP_003096.1:p.Ala515ValfsTer?
XM_011542963.1:c.1544del	XP_011541265.1:p.Ala515ValfsTer?
XM_011542964.1:c.1544del	XP_011541266.1:p.Ala515ValfsTer?
XM_011542965.1:c.-79del	XP_011541267.1:n.-79del
XM_011542963.3:c.1544del	XP_011541265.1:p.Ala515ValfsTer?
XM_011542965.3:c.-79del	XP_011541267.1:n.-79del
XM_017018169.2:c.1232del	XP_016873658.1:p.Ala411ValfsTer?
XM_017018170.2:c.1019del	XP_016873659.1:p.Ala340ValfsTer?
XM_017018171.1:c.1544del	XP_016873660.1:p.Ala515ValfsTer?
NM_003105.6:c.1544del MANE Select	NP_003096.2:p.Ala515ValfsTer?