Canonical Allele Identifier: CA1072525861
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756219202
gnomAD v3: 5-1414478-G-GGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGA
gnomAD v4: 5-1414478-G-GGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGAGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGAGGGCC GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGAGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGAGGGCC GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGAGGGCC NCBI36
NG_015885.1:g.35950_35951insTCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+212_1156+213insTCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCC MANE Select ENSP00000270349.9:n.1156+212_1156+213insTCCACCCAGTGCCTTCCCCGC...
ENST00000270349.11:c.1156+212_1156+213insTCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCC ENSP00000270349.9:n.1156+212_1156+213insTCCACCCAGTGCCTTCCCCGC...
NM_001044.4:c.1156+212_1156+213insTCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCC NP_001035.1:n.1156+212_1156+213insTCCACCCAGTGCCTTCCCCGCCCTGCC...
NM_001044.5:c.1156+212_1156+213insTCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCC MANE Select NP_001035.1:n.1156+212_1156+213insTCCACCCAGTGCCTTCCCCGCCCTGCC...
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