Canonical Allele Identifier: CA1072526866
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414497-C-CGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGA
gnomAD v4: 5-1414497-C-CGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414506_1414507insACTGGGTGGGGGGCCGGGAGGGGCAGGGAGGGGAAGGC , CM000667.2:g.1414506_1414507insACTGGGTGGGGGGCCGGGAGGGGCAGGGAGGGGAAGGC GRCh38
NC_000005.9:g.1414621_1414622insACTGGGTGGGGGGCCGGGAGGGGCAGGGAGGGGAAGGC , CM000667.1:g.1414621_1414622insACTGGGTGGGGGGCCGGGAGGGGCAGGGAGGGGAAGGC GRCh37
NC_000005.8:g.1467621_1467622insACTGGGTGGGGGGCCGGGAGGGGCAGGGAGGGGAAGGC NCBI36
NG_015885.1:g.35931_35932insTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+193_1156+194insTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCC MANE Select ENSP00000270349.9:n.1156+193_1156+194insTCCCTGCCCCTCCCGGCCCCC...
ENST00000270349.11:c.1156+193_1156+194insTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCC ENSP00000270349.9:n.1156+193_1156+194insTCCCTGCCCCTCCCGGCCCCC...
NM_001044.4:c.1156+193_1156+194insTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCC NP_001035.1:n.1156+193_1156+194insTCCCTGCCCCTCCCGGCCCCCCACCCA...
NM_001044.5:c.1156+193_1156+194insTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCC MANE Select NP_001035.1:n.1156+193_1156+194insTCCCTGCCCCTCCCGGCCCCCCACCCA...
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