Canonical Allele Identifier: CA229897215

Gene: SORL1

Linked Data

• dbSNP Id: rs778826756
• MyVariant Identifiers: chr11:g.121423439_121423442del (hg19) ; chr11:g.121552730_121552733del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121552733_121552736del , CM000673.2:g.121552733_121552736del	GRCh38
NC_000011.9:g.121423442_121423445del , CM000673.1:g.121423442_121423445del	GRCh37
NC_000011.8:g.120928652_120928655del	NCBI36
NG_023313.1:g.105482_105485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2267-1204_2267-1201del MANE Select	ENSP00000260197.6:n.2267-1204_2267-1201del
ENST00000260197.11:c.2267-1204_2267-1201del	ENSP00000260197.6:n.2267-1204_2267-1201del
NM_003105.5:c.2267-1204_2267-1201del	NP_003096.1:n.2267-1204_2267-1201del
XM_011542963.1:c.2267-1204_2267-1201del	XP_011541265.1:n.2267-1204_2267-1201del
XM_011542964.1:c.2267-1204_2267-1201del	XP_011541266.1:n.2267-1204_2267-1201del
XM_011542965.1:c.728-1204_728-1201del	XP_011541267.1:n.728-1204_728-1201del
XM_011542963.3:c.2267-1204_2267-1201del	XP_011541265.1:n.2267-1204_2267-1201del
XM_011542965.3:c.728-1204_728-1201del	XP_011541267.1:n.728-1204_728-1201del
XM_017018169.2:c.1955-1204_1955-1201del	XP_016873658.1:n.1955-1204_1955-1201del
XM_017018170.2:c.1742-1204_1742-1201del	XP_016873659.1:n.1742-1204_1742-1201del
XM_017018171.1:c.2267-1204_2267-1201del	XP_016873660.1:n.2267-1204_2267-1201del
XM_017018172.2:c.-282-1204_-282-1201del	XP_016873661.1:n.-282-1204_-282-1201del
NM_003105.6:c.2267-1204_2267-1201del MANE Select	NP_003096.2:n.2267-1204_2267-1201del