Canonical Allele Identifier: CA1072523336

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414445_1414446insTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414445_1414446insTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC	GRCh38
NC_000005.9:g.1414560_1414561insTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414560_1414561insTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC	GRCh37
NC_000005.8:g.1467560_1467561insTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC	NCBI36
NG_015885.1:g.36004_36005insCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC

Transcript Alleles

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