Canonical Allele Identifier: CA1072523600

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414424-A-AGAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGG
• gnomAD v4: 5-1414424-A-AGAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414443_1414444insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGG , CM000667.2:g.1414443_1414444insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGG	GRCh38
NC_000005.9:g.1414558_1414559insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGG , CM000667.1:g.1414558_1414559insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGG	GRCh37
NC_000005.8:g.1467558_1467559insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGG	NCBI36
NG_015885.1:g.36004_36005insCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+266_1156+267insCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTC MANE Select	ENSP00000270349.9:n.1156+266_1156+267insCCTGCCCTGCCCCTCCCGGCC...
ENST00000270349.11:c.1156+266_1156+267insCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTC	ENSP00000270349.9:n.1156+266_1156+267insCCTGCCCTGCCCCTCCCGGCC...
NM_001044.4:c.1156+266_1156+267insCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTC	NP_001035.1:n.1156+266_1156+267insCCTGCCCTGCCCCTCCCGGCCCCCCAC...
NM_001044.5:c.1156+266_1156+267insCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTC MANE Select	NP_001035.1:n.1156+266_1156+267insCCTGCCCTGCCCCTCCCGGCCCCCCAC...