Canonical Allele Identifier: CA557566070
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560913014
gnomAD v2: 5-1414599-T-TGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCG
gnomAD v3: 5-1414484-T-TGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCG
gnomAD v4: 5-1414484-T-TGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCG
MyVariant Identifiers: chr5:g.1414599_1414600insGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCG (hg19) chr5:g.1414484_1414485insGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414486_1414487insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGG , CM000667.2:g.1414486_1414487insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGG GRCh38
NC_000005.9:g.1414601_1414602insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGG , CM000667.1:g.1414601_1414602insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGG GRCh37
NC_000005.8:g.1467601_1467602insGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGG NCBI36
NG_015885.1:g.35944_35945insCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCC

Transcript Alleles

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