Canonical Allele Identifier: CA1072525424
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756217115
gnomAD v3: 5-1414469-G-GGGTGGGGGGCCTGGAGGGTCAGGGCGGAGAAGGCA
gnomAD v4: 5-1414469-G-GGGTGGGGGGCCTGGAGGGTCAGGGCGGAGAAGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414469_1414470insGGTGGGGGGCCTGGAGGGTCAGGGCGGAGAAGGCA , CM000667.2:g.1414469_1414470insGGTGGGGGGCCTGGAGGGTCAGGGCGGAGAAGGCA GRCh38
NC_000005.9:g.1414584_1414585insGGTGGGGGGCCTGGAGGGTCAGGGCGGAGAAGGCA , CM000667.1:g.1414584_1414585insGGTGGGGGGCCTGGAGGGTCAGGGCGGAGAAGGCA GRCh37
NC_000005.8:g.1467584_1467585insGGTGGGGGGCCTGGAGGGTCAGGGCGGAGAAGGCA NCBI36
NG_015885.1:g.35959_35960insTGCCTTCTCCGCCCTGACCCTCCAGGCCCCCCACC

Transcript Alleles

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