Canonical Allele Identifier: CA1072524500

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756213763
• gnomAD v3: 5-1414446-G-GGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCT
• gnomAD v4: 5-1414446-G-GGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC	GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC	GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC	NCBI36
NG_015885.1:g.35982_35983insAGGCCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+244_1156+245insAGGCCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC MANE Select	ENSP00000270349.9:n.1156+244_1156+245insAGGCCCCCCCACCCAGTGCCT...
ENST00000270349.11:c.1156+244_1156+245insAGGCCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC	ENSP00000270349.9:n.1156+244_1156+245insAGGCCCCCCCACCCAGTGCCT...
NM_001044.4:c.1156+244_1156+245insAGGCCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC	NP_001035.1:n.1156+244_1156+245insAGGCCCCCCCACCCAGTGCCTTCCCTG...
NM_001044.5:c.1156+244_1156+245insAGGCCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC MANE Select	NP_001035.1:n.1156+244_1156+245insAGGCCCCCCCACCCAGTGCCTTCCCTG...