Canonical Allele Identifier: CA557566005
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560912816
gnomAD v2: 5-1414530-G-GCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGT
gnomAD v3: 5-1414415-G-GCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGT
gnomAD v4: 5-1414415-G-GCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGT
MyVariant Identifiers: chr5:g.1414568_1414606delinsTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGT (hg19) chr5:g.1414453_1414491delinsTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414452_1414453insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGG , CM000667.2:g.1414452_1414453insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGG GRCh38
NC_000005.9:g.1414567_1414568insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGG , CM000667.1:g.1414567_1414568insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGG GRCh37
NC_000005.8:g.1467567_1467568insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGG NCBI36
NG_015885.1:g.36013_36014insACCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTG MANE Select ENSP00000270349.9:n.1156+275_1156+276insACCCTCCCGGCCCCCCACCCA...
ENST00000270349.11:c.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTG ENSP00000270349.9:n.1156+275_1156+276insACCCTCCCGGCCCCCCACCCA...
NM_001044.4:c.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTG NP_001035.1:n.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGTGCCT...
NM_001044.5:c.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTG MANE Select NP_001035.1:n.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGTGCCT...
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