Canonical Allele Identifier: CA1072523680
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756210249
gnomAD v3: 5-1414424-A-AAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG
gnomAD v4: 5-1414424-A-AAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414424_1414425insAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG , CM000667.2:g.1414424_1414425insAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG GRCh38
NC_000005.9:g.1414539_1414540insAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG , CM000667.1:g.1414539_1414540insAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG GRCh37
NC_000005.8:g.1467539_1467540insAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG NCBI36
NG_015885.1:g.36004_36005insCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCT

Transcript Alleles

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