Canonical Allele Identifier: CA1072524533
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414446-G-GGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCT
gnomAD v4: 5-1414446-G-GGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414458_1414459insAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGG , CM000667.2:g.1414458_1414459insAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGG GRCh38
NC_000005.9:g.1414573_1414574insAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGG , CM000667.1:g.1414573_1414574insAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGG GRCh37
NC_000005.8:g.1467573_1467574insAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGG NCBI36
NG_015885.1:g.35982_35983insAGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCC MANE Select ENSP00000270349.9:n.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTT...
ENST00000270349.11:c.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCC ENSP00000270349.9:n.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTT...
NM_001044.4:c.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCC NP_001035.1:n.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTTCCCTTC...
NM_001044.5:c.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCC MANE Select NP_001035.1:n.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTTCCCTTC...
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