Canonical Allele Identifier: CA1072527628
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414515-G-GGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA
gnomAD v4: 5-1414515-G-GGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414518_1414519insGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG , CM000667.2:g.1414518_1414519insGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG GRCh38
NC_000005.9:g.1414633_1414634insGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG , CM000667.1:g.1414633_1414634insGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG GRCh37
NC_000005.8:g.1467633_1467634insGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG NCBI36
NG_015885.1:g.35913_35914insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCC MANE Select ENSP00000270349.9:n.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACC...
ENST00000270349.11:c.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCC ENSP00000270349.9:n.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACC...
NM_001044.4:c.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCC NP_001035.1:n.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACCCAGTGC...
NM_001044.5:c.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCC MANE Select NP_001035.1:n.1156+175_1156+176insTGCCCCTCCCGGCCCCCCACCCAGTGC...
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