Canonical Allele Identifier: CA1072525563
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414469-G-GCTAGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA
gnomAD v4: 5-1414469-G-GCTAGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414471_1414472insAGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT , CM000667.2:g.1414471_1414472insAGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GRCh38
NC_000005.9:g.1414586_1414587insAGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT , CM000667.1:g.1414586_1414587insAGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GRCh37
NC_000005.8:g.1467586_1467587insAGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT NCBI36
NG_015885.1:g.35959_35960insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCTAG MANE Select ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCT...
ENST00000270349.11:c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCTAG ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCT...
NM_001044.4:c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCTAG NP_001035.1:n.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGC...
NM_001044.5:c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCTAG MANE Select NP_001035.1:n.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGC...
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