Canonical Allele Identifier: CA1072522530
Gene: SLC6A3 HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414410_1414411insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGG , CM000667.2:g.1414410_1414411insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGG GRCh38
NC_000005.9:g.1414525_1414526insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGG , CM000667.1:g.1414525_1414526insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGG GRCh37
NC_000005.8:g.1467525_1467526insGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGG NCBI36
NG_015885.1:g.36020_36021insCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCC

Transcript Alleles

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