Canonical Allele Identifier: CA917398246
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1579721521
gnomAD v3: 5-1430802-C-CTCCCGCCTGGCTGTTCCTATCACT
gnomAD v4: 5-1430802-C-CTCCCGCCTGGCTGTTCCTATCACT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1430802_1430803insTCCCGCCTGGCTGTTCCTATCACT , CM000667.2:g.1430802_1430803insTCCCGCCTGGCTGTTCCTATCACT GRCh38
NC_000005.9:g.1430917_1430918insTCCCGCCTGGCTGTTCCTATCACT , CM000667.1:g.1430917_1430918insTCCCGCCTGGCTGTTCCTATCACT GRCh37
NC_000005.8:g.1483917_1483918insTCCCGCCTGGCTGTTCCTATCACT NCBI36
NG_015885.1:g.19626_19627insAGTGATAGGAACAGCCAGGCGGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.653+1661_653+1662insAGTGATAGGAACAGCCAGGCGGGA MANE Select ENSP00000270349.9:n.653+1661_653+1662insAGTGATAGGAACAGCCAGGCG...
ENST00000270349.11:c.653+1661_653+1662insAGTGATAGGAACAGCCAGGCGGGA ENSP00000270349.9:n.653+1661_653+1662insAGTGATAGGAACAGCCAGGCG...
NM_001044.4:c.653+1661_653+1662insAGTGATAGGAACAGCCAGGCGGGA NP_001035.1:n.653+1661_653+1662insAGTGATAGGAACAGCCAGGCGGGA
NM_001044.5:c.653+1661_653+1662insAGTGATAGGAACAGCCAGGCGGGA MANE Select NP_001035.1:n.653+1661_653+1662insAGTGATAGGAACAGCCAGGCGGGA
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