Canonical Allele Identifier: CA1072525850
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414475-T-TGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTG
gnomAD v4: 5-1414475-T-TGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414481_1414482insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGG , CM000667.2:g.1414481_1414482insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGG GRCh38
NC_000005.9:g.1414596_1414597insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGG , CM000667.1:g.1414596_1414597insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGG GRCh37
NC_000005.8:g.1467596_1467597insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGG NCBI36
NG_015885.1:g.35953_35954insCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+215_1156+216insCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCC MANE Select ENSP00000270349.9:n.1156+215_1156+216insCACCCAGTGCCTTCCCCGCCC...
ENST00000270349.11:c.1156+215_1156+216insCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCC ENSP00000270349.9:n.1156+215_1156+216insCACCCAGTGCCTTCCCCGCCC...
NM_001044.4:c.1156+215_1156+216insCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCC NP_001035.1:n.1156+215_1156+216insCACCCAGTGCCTTCCCCGCCCTGCCCC...
NM_001044.5:c.1156+215_1156+216insCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCC MANE Select NP_001035.1:n.1156+215_1156+216insCACCCAGTGCCTTCCCCGCCCTGCCCC...
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