Canonical Allele Identifier: CA672574626

Gene: SORL1

Linked Data

• dbSNP Id: rs1180951174
• gnomAD v3: 11-121486279-G-GTGTGCATGCGAGGCCTTACATCATC
• gnomAD v4: 11-121486279-G-GTGTGCATGCGAGGCCTTACATCATC
• MyVariant Identifiers: chr11:g.121356988_121356989insTGTGCATGCGAGGCCTTACATCATC (hg19) ; chr11:g.121486279_121486280insTGTGCATGCGAGGCCTTACATCATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486285_121486309dup , CM000673.2:g.121486285_121486309dup	GRCh38
NC_000011.9:g.121356994_121357018dup , CM000673.1:g.121356994_121357018dup	GRCh37
NC_000011.8:g.120862204_120862228dup	NCBI36
NG_023313.1:g.39034_39058dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1747_529-1723dup MANE Select	ENSP00000260197.6:n.529-1747_529-1723dup
ENST00000260197.11:c.529-1747_529-1723dup	ENSP00000260197.6:n.529-1747_529-1723dup
ENST00000532451.1:n.481-1747_481-1723dup
NM_003105.5:c.529-1747_529-1723dup	NP_003096.1:n.529-1747_529-1723dup
XM_011542963.1:c.529-1747_529-1723dup	XP_011541265.1:n.529-1747_529-1723dup
XM_011542964.1:c.529-1747_529-1723dup	XP_011541266.1:n.529-1747_529-1723dup
XM_011542963.3:c.529-1747_529-1723dup	XP_011541265.1:n.529-1747_529-1723dup
XM_017018169.2:c.217-1747_217-1723dup	XP_016873658.1:n.217-1747_217-1723dup
XM_017018171.1:c.529-1747_529-1723dup	XP_016873660.1:n.529-1747_529-1723dup
NM_003105.6:c.529-1747_529-1723dup MANE Select	NP_003096.2:n.529-1747_529-1723dup