Canonical Allele Identifier: CA1522627035
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756213625
gnomAD v3: 5-1414446-G-GGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCT
gnomAD v4: 5-1414446-G-GGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414461_1414462insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG , CM000667.2:g.1414461_1414462insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG GRCh38
NC_000005.9:g.1414576_1414577insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG , CM000667.1:g.1414576_1414577insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG GRCh37
NC_000005.8:g.1467576_1467577insAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG NCBI36
NG_015885.1:g.35982_35983insAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCC

Transcript Alleles

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