Canonical Allele Identifier: CA1072524311
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414431-A-ACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGTG
gnomAD v4: 5-1414431-A-ACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414459_1414460insAGGGAAGGTGCTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.2:g.1414459_1414460insAGGGAAGGTGCTGGGTGGGGGGCCGGGAGGGGCAGGGC GRCh38
NC_000005.9:g.1414574_1414575insAGGGAAGGTGCTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.1:g.1414574_1414575insAGGGAAGGTGCTGGGTGGGGGGCCGGGAGGGGCAGGGC GRCh37
NC_000005.8:g.1467574_1467575insAGGGAAGGTGCTGGGTGGGGGGCCGGGAGGGGCAGGGC NCBI36
NG_015885.1:g.35997_35998insCACCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAG

Transcript Alleles

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