Canonical Allele Identifier: CA1072526857
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756222768
gnomAD v3: 5-1414496-G-GCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGT
gnomAD v4: 5-1414496-G-GCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414506_1414507insACTGGGTGGGGGGCCGGGAGGGGCAGGTCGGGGAAGGC , CM000667.2:g.1414506_1414507insACTGGGTGGGGGGCCGGGAGGGGCAGGTCGGGGAAGGC GRCh38
NC_000005.9:g.1414621_1414622insACTGGGTGGGGGGCCGGGAGGGGCAGGTCGGGGAAGGC , CM000667.1:g.1414621_1414622insACTGGGTGGGGGGCCGGGAGGGGCAGGTCGGGGAAGGC GRCh37
NC_000005.8:g.1467621_1467622insACTGGGTGGGGGGCCGGGAGGGGCAGGTCGGGGAAGGC NCBI36
NG_015885.1:g.35932_35933insACCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+194_1156+195insACCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCG MANE Select ENSP00000270349.9:n.1156+194_1156+195insACCTGCCCCTCCCGGCCCCCC...
ENST00000270349.11:c.1156+194_1156+195insACCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCG ENSP00000270349.9:n.1156+194_1156+195insACCTGCCCCTCCCGGCCCCCC...
NM_001044.4:c.1156+194_1156+195insACCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCG NP_001035.1:n.1156+194_1156+195insACCTGCCCCTCCCGGCCCCCCACCCAG...
NM_001044.5:c.1156+194_1156+195insACCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCG MANE Select NP_001035.1:n.1156+194_1156+195insACCTGCCCCTCCCGGCCCCCCACCCAG...
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