Canonical Allele Identifier: CA634326173

Gene: SLC52A3

Linked Data

• gnomAD v2: 20-741847-A-ACTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGCGTAG
• gnomAD v3: 20-761203-A-ACTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGCGTAG
• gnomAD v4: 20-761203-A-ACTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGCGTAG
• MyVariant Identifiers: chr20:g.741847_741848insCTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGCGTAG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761258_761259insCGTAGCTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAG , CM000682.2:g.761258_761259insCGTAGCTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAG	GRCh38
NC_000020.10:g.741902_741903insCGTAGCTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAG , CM000682.1:g.741902_741903insCGTAGCTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAG	GRCh37
NC_000020.9:g.689902_689903insCGTAGCTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAG	NCBI36
NG_027687.1:g.12381_12382insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
NG_027687.2:g.19782_19783insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000381944.5:c.*446_*447insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG	ENSP00000371370.3:n.*446_*447insCTACGCTTC...
ENST00000473664.2:c.726_727insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
ENST00000488495.3:c.1232_1233insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
ENST00000645534.1:c.1232_1233insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
ENST00000217254.11:c.1232_1233insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
ENST00000381944.4:c.*446_*447insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG	ENSP00000371370.3:n.*446_*447insCTACGCTTC...
ENST00000473664.1:n.777_778insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
ENST00000632431.1:c.1232_1233insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
NM_033409.3:c.1232_1233insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
XM_005260655.3:c.1232_1233insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
XM_011529148.1:c.1232_1233insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
XM_005260655.4:c.1232_1233insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
XM_024451821.1:c.1232_1233insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
NM_033409.4:c.1232_1233insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
NM_001370085.1:c.1232_1233insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG
NM_001370086.1:c.1232_1233insCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG