Canonical Allele Identifier: CA942945668

Gene: SORL1

Linked Data

• dbSNP Id: rs1861474135
• gnomAD v3: 11-121486486-T-TG
• gnomAD v4: 11-121486486-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486486_121486487insG , CM000673.2:g.121486486_121486487insG	GRCh38
NC_000011.9:g.121357195_121357196insG , CM000673.1:g.121357195_121357196insG	GRCh37
NC_000011.8:g.120862405_120862406insG	NCBI36
NG_023313.1:g.39235_39236insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1546_529-1545insG MANE Select	ENSP00000260197.6:n.529-1546_529-1545insG
ENST00000260197.11:c.529-1546_529-1545insG	ENSP00000260197.6:n.529-1546_529-1545insG
ENST00000532451.1:n.481-1546_481-1545insG
NM_003105.5:c.529-1546_529-1545insG	NP_003096.1:n.529-1546_529-1545insG
XM_011542963.1:c.529-1546_529-1545insG	XP_011541265.1:n.529-1546_529-1545insG
XM_011542964.1:c.529-1546_529-1545insG	XP_011541266.1:n.529-1546_529-1545insG
XM_011542963.3:c.529-1546_529-1545insG	XP_011541265.1:n.529-1546_529-1545insG
XM_017018169.2:c.217-1546_217-1545insG	XP_016873658.1:n.217-1546_217-1545insG
XM_017018170.2:c.3+29_3+30insG	XP_016873659.1:n.3+29_3+30insG
XM_017018171.1:c.529-1546_529-1545insG	XP_016873660.1:n.529-1546_529-1545insG
NM_003105.6:c.529-1546_529-1545insG MANE Select	NP_003096.2:n.529-1546_529-1545insG