Canonical Allele Identifier: CA1072524524
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414446-G-GGAGGGTCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCT
gnomAD v4: 5-1414446-G-GGAGGGTCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414447_1414448insAGGGTCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCTG , CM000667.2:g.1414447_1414448insAGGGTCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCTG GRCh38
NC_000005.9:g.1414562_1414563insAGGGTCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCTG , CM000667.1:g.1414562_1414563insAGGGTCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCTG GRCh37
NC_000005.8:g.1467562_1467563insAGGGTCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCTG NCBI36
NG_015885.1:g.35982_35983insAGGCCCCCCACCCAGCGCCTTCCCTGCCCTGACCCTC

Transcript Alleles

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