Canonical Allele Identifier: CA1072526030
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414484-T-TGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCG
gnomAD v4: 5-1414484-T-TGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414486_1414487insGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGG , CM000667.2:g.1414486_1414487insGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGG GRCh38
NC_000005.9:g.1414601_1414602insGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGG , CM000667.1:g.1414601_1414602insGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGG GRCh37
NC_000005.8:g.1467601_1467602insGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGG NCBI36
NG_015885.1:g.35944_35945insCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCC MANE Select ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTT...
ENST00000270349.11:c.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCC ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTT...
NM_001044.4:c.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCC NP_001035.1:n.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTTC...
NM_001044.5:c.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCC MANE Select NP_001035.1:n.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTTC...
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