Canonical Allele Identifier: CA2004887897

Gene: SORL1

Linked Data

• dbSNP Id: rs1861551732

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121491472_121491475dup , CM000673.2:g.121491472_121491475dup	GRCh38
NC_000011.9:g.121362181_121362184dup , CM000673.1:g.121362181_121362184dup	GRCh37
NC_000011.8:g.120867391_120867394dup	NCBI36
NG_023313.1:g.44221_44224dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.758+1362_758+1365dup MANE Select	ENSP00000260197.6:n.758+1362_758+1365dup
ENST00000260197.11:c.758+1362_758+1365dup	ENSP00000260197.6:n.758+1362_758+1365dup
ENST00000532451.1:n.710+1362_710+1365dup
NM_003105.5:c.758+1362_758+1365dup	NP_003096.1:n.758+1362_758+1365dup
XM_011542963.1:c.758+1362_758+1365dup	XP_011541265.1:n.758+1362_758+1365dup
XM_011542964.1:c.758+1362_758+1365dup	XP_011541266.1:n.758+1362_758+1365dup
XM_011542963.3:c.758+1362_758+1365dup	XP_011541265.1:n.758+1362_758+1365dup
XM_017018169.2:c.446+1362_446+1365dup	XP_016873658.1:n.446+1362_446+1365dup
XM_017018170.2:c.233+1362_233+1365dup	XP_016873659.1:n.233+1362_233+1365dup
XM_017018171.1:c.758+1362_758+1365dup	XP_016873660.1:n.758+1362_758+1365dup
NM_003105.6:c.758+1362_758+1365dup MANE Select	NP_003096.2:n.758+1362_758+1365dup