Canonical Allele Identifier: CA672574693

Gene: SORL1

Linked Data

• dbSNP Id: rs1264788317
• gnomAD v3: 11-121486463-ACT-A
• gnomAD v4: 11-121486463-ACT-A
• MyVariant Identifiers: chr11:g.121357173_121357174del (hg19) ; chr11:g.121486464_121486465del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486466_121486467del , CM000673.2:g.121486466_121486467del	GRCh38
NC_000011.9:g.121357175_121357176del , CM000673.1:g.121357175_121357176del	GRCh37
NC_000011.8:g.120862385_120862386del	NCBI36
NG_023313.1:g.39215_39216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1566_529-1565del MANE Select	ENSP00000260197.6:n.529-1566_529-1565del
ENST00000260197.11:c.529-1566_529-1565del	ENSP00000260197.6:n.529-1566_529-1565del
ENST00000532451.1:n.481-1566_481-1565del
NM_003105.5:c.529-1566_529-1565del	NP_003096.1:n.529-1566_529-1565del
XM_011542963.1:c.529-1566_529-1565del	XP_011541265.1:n.529-1566_529-1565del
XM_011542964.1:c.529-1566_529-1565del	XP_011541266.1:n.529-1566_529-1565del
XM_011542963.3:c.529-1566_529-1565del	XP_011541265.1:n.529-1566_529-1565del
XM_017018169.2:c.217-1566_217-1565del	XP_016873658.1:n.217-1566_217-1565del
XM_017018170.2:c.3+9_3+10del	XP_016873659.1:n.3+9_3+10del
XM_017018171.1:c.529-1566_529-1565del	XP_016873660.1:n.529-1566_529-1565del
NM_003105.6:c.529-1566_529-1565del MANE Select	NP_003096.2:n.529-1566_529-1565del