Canonical Allele Identifier: CA1072527089
Gene: SLC6A3 HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414498_1414499insCTGGGTGGGGGGCCGGGAGGGGCAGGGGA , CM000667.2:g.1414498_1414499insCTGGGTGGGGGGCCGGGAGGGGCAGGGGA GRCh38
NC_000005.9:g.1414613_1414614insCTGGGTGGGGGGCCGGGAGGGGCAGGGGA , CM000667.1:g.1414613_1414614insCTGGGTGGGGGGCCGGGAGGGGCAGGGGA GRCh37
NC_000005.8:g.1467613_1467614insCTGGGTGGGGGGCCGGGAGGGGCAGGGGA NCBI36
NG_015885.1:g.35930_35931insTCCCCTGCCCCTCCCGGCCCCCCACCCAG

Transcript Alleles

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