Canonical Allele Identifier: CA1072527131
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414498-G-GGGGAAGGCACTGGGTGGGGGGCCGGGAGGAA
gnomAD v4: 5-1414498-G-GGGGAAGGCACTGGGTGGGGGGCCGGGAGGAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414506_1414507insACTGGGTGGGGGGCCGGGAGGAAGGGAAGGC , CM000667.2:g.1414506_1414507insACTGGGTGGGGGGCCGGGAGGAAGGGAAGGC GRCh38
NC_000005.9:g.1414621_1414622insACTGGGTGGGGGGCCGGGAGGAAGGGAAGGC , CM000667.1:g.1414621_1414622insACTGGGTGGGGGGCCGGGAGGAAGGGAAGGC GRCh37
NC_000005.8:g.1467621_1467622insACTGGGTGGGGGGCCGGGAGGAAGGGAAGGC NCBI36
NG_015885.1:g.35930_35931insTTCCTCCCGGCCCCCCACCCAGTGCCTTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+192_1156+193insTTCCTCCCGGCCCCCCACCCAGTGCCTTCCC MANE Select ENSP00000270349.9:n.1156+192_1156+193insTTCCTCCCGGCCCCCCACCCA...
ENST00000270349.11:c.1156+192_1156+193insTTCCTCCCGGCCCCCCACCCAGTGCCTTCCC ENSP00000270349.9:n.1156+192_1156+193insTTCCTCCCGGCCCCCCACCCA...
NM_001044.4:c.1156+192_1156+193insTTCCTCCCGGCCCCCCACCCAGTGCCTTCCC NP_001035.1:n.1156+192_1156+193insTTCCTCCCGGCCCCCCACCCAGTGCCT...
NM_001044.5:c.1156+192_1156+193insTTCCTCCCGGCCCCCCACCCAGTGCCTTCCC MANE Select NP_001035.1:n.1156+192_1156+193insTTCCTCCCGGCCCCCCACCCAGTGCCT...
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