Canonical Allele Identifier: CA1072524297
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs2126351854
gnomAD v3: 5-1414431-A-ACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCG
gnomAD v4: 5-1414431-A-ACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414458_1414459insAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGG , CM000667.2:g.1414458_1414459insAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGG GRCh38
NC_000005.9:g.1414573_1414574insAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGG , CM000667.1:g.1414573_1414574insAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGG GRCh37
NC_000005.8:g.1467573_1467574insAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGG NCBI36
NG_015885.1:g.35997_35998insCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select ENSP00000270349.9:n.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCT...
ENST00000270349.11:c.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG ENSP00000270349.9:n.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCT...
NM_001044.4:c.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG NP_001035.1:n.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCTCCCGGC...
NM_001044.5:c.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select NP_001035.1:n.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCTCCCGGC...
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