Canonical Allele Identifier: CA1072525678
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414469-G-GCTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA
gnomAD v4: 5-1414469-G-GCTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414481_1414482insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG , CM000667.2:g.1414481_1414482insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG GRCh38
NC_000005.9:g.1414596_1414597insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG , CM000667.1:g.1414596_1414597insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG GRCh37
NC_000005.8:g.1467596_1467597insGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG NCBI36
NG_015885.1:g.35959_35960insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAG MANE Select ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCT...
ENST00000270349.11:c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAG ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCT...
NM_001044.4:c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAG NP_001035.1:n.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGC...
NM_001044.5:c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAG MANE Select NP_001035.1:n.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGC...
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