Canonical Allele Identifier: CA2603460137

Gene: SORL1

Linked Data

• gnomAD v3: 11-121486564-CCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG-C
• gnomAD v4: 11-121486564-CCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486566_121486611del , CM000673.2:g.121486566_121486611del	GRCh38
NC_000011.9:g.121357275_121357320del , CM000673.1:g.121357275_121357320del	GRCh37
NC_000011.8:g.120862485_120862530del	NCBI36
NG_023313.1:g.39315_39360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1466_529-1421del MANE Select	ENSP00000260197.6:n.529-1466_529-1421del
ENST00000260197.11:c.529-1466_529-1421del	ENSP00000260197.6:n.529-1466_529-1421del
ENST00000532451.1:n.481-1466_481-1421del
NM_003105.5:c.529-1466_529-1421del	NP_003096.1:n.529-1466_529-1421del
XM_011542963.1:c.529-1466_529-1421del	XP_011541265.1:n.529-1466_529-1421del
XM_011542964.1:c.529-1466_529-1421del	XP_011541266.1:n.529-1466_529-1421del
XM_011542963.3:c.529-1466_529-1421del	XP_011541265.1:n.529-1466_529-1421del
XM_017018169.2:c.217-1466_217-1421del	XP_016873658.1:n.217-1466_217-1421del
XM_017018170.2:c.3+109_3+154del	XP_016873659.1:n.3+109_3+154del
XM_017018171.1:c.529-1466_529-1421del	XP_016873660.1:n.529-1466_529-1421del
NM_003105.6:c.529-1466_529-1421del MANE Select	NP_003096.2:n.529-1466_529-1421del