Canonical Allele Identifier: CA2725074868

Gene: SORL1

Linked Data

• dbSNP Id: rs2134814204

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121490404_121490418del , CM000673.2:g.121490404_121490418del	GRCh38
NC_000011.9:g.121361113_121361127del , CM000673.1:g.121361113_121361127del	GRCh37
NC_000011.8:g.120866323_120866337del	NCBI36
NG_023313.1:g.43153_43167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.758+294_758+308del MANE Select	ENSP00000260197.6:n.758+294_758+308del
ENST00000260197.11:c.758+294_758+308del	ENSP00000260197.6:n.758+294_758+308del
ENST00000532451.1:n.710+294_710+308del
NM_003105.5:c.758+294_758+308del	NP_003096.1:n.758+294_758+308del
XM_011542963.1:c.758+294_758+308del	XP_011541265.1:n.758+294_758+308del
XM_011542964.1:c.758+294_758+308del	XP_011541266.1:n.758+294_758+308del
XM_011542963.3:c.758+294_758+308del	XP_011541265.1:n.758+294_758+308del
XM_017018169.2:c.446+294_446+308del	XP_016873658.1:n.446+294_446+308del
XM_017018170.2:c.233+294_233+308del	XP_016873659.1:n.233+294_233+308del
XM_017018171.1:c.758+294_758+308del	XP_016873660.1:n.758+294_758+308del
NM_003105.6:c.758+294_758+308del MANE Select	NP_003096.2:n.758+294_758+308del