Canonical Allele Identifier: CA1072525681
Gene: SLC6A3 HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414469_1414470insGGAGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCA , CM000667.2:g.1414469_1414470insGGAGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCA GRCh38
NC_000005.9:g.1414584_1414585insGGAGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCA , CM000667.1:g.1414584_1414585insGGAGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCA GRCh37
NC_000005.8:g.1467584_1467585insGGAGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCA NCBI36
NG_015885.1:g.35959_35960insTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCTCC

Transcript Alleles

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