Canonical Allele Identifier: CA1072524518
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560912906
gnomAD v3: 5-1414446-G-GGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCT
gnomAD v4: 5-1414446-G-GGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414447_1414448insAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTG , CM000667.2:g.1414447_1414448insAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTG GRCh38
NC_000005.9:g.1414562_1414563insAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTG , CM000667.1:g.1414562_1414563insAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTG GRCh37
NC_000005.8:g.1467562_1467563insAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTG NCBI36
NG_015885.1:g.35982_35983insAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTC

Transcript Alleles

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