Canonical Allele Identifier: CA557565985
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560912743
gnomAD v2: 5-1414501-A-AAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGG
gnomAD v3: 5-1414386-A-AAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGG
gnomAD v4: 5-1414386-A-AAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGG
MyVariant Identifiers: chr5:g.1414507_1414540delinsGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAG (hg19) chr5:g.1414392_1414425delinsGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414391_1414392insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC , CM000667.2:g.1414391_1414392insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC GRCh38
NC_000005.9:g.1414506_1414507insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC , CM000667.1:g.1414506_1414507insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC GRCh37
NC_000005.8:g.1467506_1467507insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGC NCBI36
NG_015885.1:g.36042_36043insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT MANE Select ENSP00000270349.9:n.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGC...
ENST00000270349.11:c.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT ENSP00000270349.9:n.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGC...
NM_001044.4:c.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT NP_001035.1:n.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCA...
NM_001044.5:c.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT MANE Select NP_001035.1:n.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCA...
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