Canonical Allele Identifier: CA229983865

Gene: SORL1

Linked Data

• dbSNP Id: rs924235330
• gnomAD v2: 11-121375968-C-CT
• gnomAD v3: 11-121505259-C-CT
• gnomAD v4: 11-121505259-C-CT
• MyVariant Identifiers: chr11:g.121375969_121375970insT (hg19) ; chr11:g.121375968_121375969insT (hg19) ; chr11:g.121505260_121505261insT (hg38) ; chr11:g.121505259_121505260insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121505267dup , CM000673.2:g.121505267dup	GRCh38
NC_000011.9:g.121375976dup , CM000673.1:g.121375976dup	GRCh37
NC_000011.8:g.120881186dup	NCBI36
NG_023313.1:g.58016dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.940-7736dup MANE Select	ENSP00000260197.6:n.940-7736dup
ENST00000260197.11:c.940-7736dup	ENSP00000260197.6:n.940-7736dup
ENST00000532451.1:n.892-7736dup
NM_003105.5:c.940-7736dup	NP_003096.1:n.940-7736dup
XM_011542963.1:c.940-7736dup	XP_011541265.1:n.940-7736dup
XM_011542964.1:c.940-7736dup	XP_011541266.1:n.940-7736dup
XM_011542963.3:c.940-7736dup	XP_011541265.1:n.940-7736dup
XM_011542965.3:c.-683-7736dup	XP_011541267.1:n.-683-7736dup
XM_017018169.2:c.628-7736dup	XP_016873658.1:n.628-7736dup
XM_017018170.2:c.415-7736dup	XP_016873659.1:n.415-7736dup
XM_017018171.1:c.940-7736dup	XP_016873660.1:n.940-7736dup
NM_003105.6:c.940-7736dup MANE Select	NP_003096.2:n.940-7736dup