Canonical Allele Identifier: CA1072522596
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414408-T-TGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCG
gnomAD v4: 5-1414408-T-TGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414420_1414421insAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG , CM000667.2:g.1414420_1414421insAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG GRCh38
NC_000005.9:g.1414535_1414536insAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG , CM000667.1:g.1414535_1414536insAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG GRCh37
NC_000005.8:g.1467535_1467536insAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG NCBI36
NG_015885.1:g.36020_36021insCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCC MANE Select ENSP00000270349.9:n.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTT...
ENST00000270349.11:c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCC ENSP00000270349.9:n.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTT...
NM_001044.4:c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCC NP_001035.1:n.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCTTC...
NM_001044.5:c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCC MANE Select NP_001035.1:n.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCTTC...
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