Canonical Allele Identifier: CA1072525738
Gene: SLC6A3 HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414490_1414491insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG , CM000667.2:g.1414490_1414491insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG GRCh38
NC_000005.9:g.1414605_1414606insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG , CM000667.1:g.1414605_1414606insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG GRCh37
NC_000005.8:g.1467605_1467606insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG NCBI36
NG_015885.1:g.35959_35960insTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAG

Transcript Alleles

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