Canonical Allele Identifier: CA1072523576

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414444_1414445insTGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGC , CM000667.2:g.1414444_1414445insTGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGC	GRCh38
NC_000005.9:g.1414559_1414560insTGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGC , CM000667.1:g.1414559_1414560insTGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGC	GRCh37
NC_000005.8:g.1467559_1467560insTGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGC	NCBI36
NG_015885.1:g.36004_36005insCCCGCCCTGCCCCTCCCAGCCCCCCACCCAGTGCCTTC

Transcript Alleles

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