Canonical Allele Identifier: CA2590929123

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414445_1414446insTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCAGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414445_1414446insTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCAGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC	GRCh38
NC_000005.9:g.1414560_1414561insTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCAGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414560_1414561insTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCAGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC	GRCh37
NC_000005.8:g.1467560_1467561insTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCAGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC	NCBI36
NG_015885.1:g.36004_36005insCCCGCCCTGCCCCTCCTGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC

Transcript Alleles

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