Canonical Allele Identifier: CA1072523497
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756210962
gnomAD v3: 5-1414424-A-AGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGG
gnomAD v4: 5-1414424-A-AGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414445_1414446insTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414445_1414446insTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC GRCh38
NC_000005.9:g.1414560_1414561insTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414560_1414561insTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC GRCh37
NC_000005.8:g.1467560_1467561insTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC NCBI36
NG_015885.1:g.36004_36005insCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTC MANE Select ENSP00000270349.9:n.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCC...
ENST00000270349.11:c.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTC ENSP00000270349.9:n.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCC...
NM_001044.4:c.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTC NP_001035.1:n.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCCCCCCAC...
NM_001044.5:c.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTC MANE Select NP_001035.1:n.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCCCCCCAC...
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