Canonical Allele Identifier: CA1072525880
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414481-G-GCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGT
gnomAD v4: 5-1414481-G-GCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414490_1414491insGCAGGGCGGGGAAGGCACTGGGTGGGGGTCCTGGAGGG , CM000667.2:g.1414490_1414491insGCAGGGCGGGGAAGGCACTGGGTGGGGGTCCTGGAGGG GRCh38
NC_000005.9:g.1414605_1414606insGCAGGGCGGGGAAGGCACTGGGTGGGGGTCCTGGAGGG , CM000667.1:g.1414605_1414606insGCAGGGCGGGGAAGGCACTGGGTGGGGGTCCTGGAGGG GRCh37
NC_000005.8:g.1467605_1467606insGCAGGGCGGGGAAGGCACTGGGTGGGGGTCCTGGAGGG NCBI36
NG_015885.1:g.35947_35948insACCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+209_1156+210insACCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGG MANE Select ENSP00000270349.9:n.1156+209_1156+210insACCCCCACCCAGTGCCTTCCC...
ENST00000270349.11:c.1156+209_1156+210insACCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGG ENSP00000270349.9:n.1156+209_1156+210insACCCCCACCCAGTGCCTTCCC...
NM_001044.4:c.1156+209_1156+210insACCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGG NP_001035.1:n.1156+209_1156+210insACCCCCACCCAGTGCCTTCCCCGCCCT...
NM_001044.5:c.1156+209_1156+210insACCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGG MANE Select NP_001035.1:n.1156+209_1156+210insACCCCCACCCAGTGCCTTCCCCGCCCT...
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