Canonical Allele Identifier: CA1072522713
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756208850
gnomAD v3: 5-1414415-G-GCAGGGCGGAGAAGGCACTGGGTGGGGGGGCCTGGAGGGT
gnomAD v4: 5-1414415-G-GCAGGGCGGAGAAGGCACTGGGTGGGGGGGCCTGGAGGGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414443_1414444insGCCTGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGG , CM000667.2:g.1414443_1414444insGCCTGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGG GRCh38
NC_000005.9:g.1414558_1414559insGCCTGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGG , CM000667.1:g.1414558_1414559insGCCTGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGG GRCh37
NC_000005.8:g.1467558_1467559insGCCTGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGG NCBI36
NG_015885.1:g.36013_36014insACCCTCCAGGCCCCCCCACCCAGTGCCTTCTCCGCCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+275_1156+276insACCCTCCAGGCCCCCCCACCCAGTGCCTTCTCCGCCCTG MANE Select ENSP00000270349.9:n.1156+275_1156+276insACCCTCCAGGCCCCCCCACCC...
ENST00000270349.11:c.1156+275_1156+276insACCCTCCAGGCCCCCCCACCCAGTGCCTTCTCCGCCCTG ENSP00000270349.9:n.1156+275_1156+276insACCCTCCAGGCCCCCCCACCC...
NM_001044.4:c.1156+275_1156+276insACCCTCCAGGCCCCCCCACCCAGTGCCTTCTCCGCCCTG NP_001035.1:n.1156+275_1156+276insACCCTCCAGGCCCCCCCACCCAGTGCC...
NM_001044.5:c.1156+275_1156+276insACCCTCCAGGCCCCCCCACCCAGTGCCTTCTCCGCCCTG MANE Select NP_001035.1:n.1156+275_1156+276insACCCTCCAGGCCCCCCCACCCAGTGCC...
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