Canonical Allele Identifier: CA645592051

Gene: SORL1

Linked Data

• COSMIC: COSM5801238

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522660_121522673del , CM000673.2:g.121522660_121522673del	GRCh38
NC_000011.9:g.121393369_121393382del , CM000673.1:g.121393369_121393382del	GRCh37
NC_000011.8:g.120898579_120898592del	NCBI36
NG_023313.1:g.75409_75422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1479_1492del MANE Select	ENSP00000260197.6:p.Ile494ValfsTer18
ENST00000260197.11:c.1479_1492del	ENSP00000260197.6:p.Ile494ValfsTer18
ENST00000532451.1:n.1431_1444del
NM_003105.5:c.1479_1492del	NP_003096.1:p.Ile494ValfsTer18
XM_011542963.1:c.1479_1492del	XP_011541265.1:p.Ile494ValfsTer18
XM_011542964.1:c.1479_1492del	XP_011541266.1:p.Ile494ValfsTer18
XM_011542965.1:c.-144_-131del	XP_011541267.1:n.-144_-131del
XM_011542963.3:c.1479_1492del	XP_011541265.1:p.Ile494ValfsTer18
XM_011542965.3:c.-144_-131del	XP_011541267.1:n.-144_-131del
XM_017018169.2:c.1167_1180del	XP_016873658.1:p.Ile390ValfsTer18
XM_017018170.2:c.954_967del	XP_016873659.1:p.Ile319ValfsTer18
XM_017018171.1:c.1479_1492del	XP_016873660.1:p.Ile494ValfsTer18
NM_003105.6:c.1479_1492del MANE Select	NP_003096.2:p.Ile494ValfsTer18