Canonical Allele Identifier: CA917398234
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1553988230
gnomAD v3: 5-1430797-C-CTCAACTCCCGCCTGGCTGTTCCTA
gnomAD v4: 5-1430797-C-CTCAACTCCCGCCTGGCTGTTCCTA
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1430800_1430801insACTCCCGCCTGGCTGTTCCTATCA , CM000667.2:g.1430800_1430801insACTCCCGCCTGGCTGTTCCTATCA GRCh38
NC_000005.9:g.1430915_1430916insACTCCCGCCTGGCTGTTCCTATCA , CM000667.1:g.1430915_1430916insACTCCCGCCTGGCTGTTCCTATCA GRCh37
NC_000005.8:g.1483915_1483916insACTCCCGCCTGGCTGTTCCTATCA NCBI36
NG_015885.1:g.19631_19632insTAGGAACAGCCAGGCGGGAGTTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.653+1666_653+1667insTAGGAACAGCCAGGCGGGAGTTGA MANE Select ENSP00000270349.9:n.653+1666_653+1667insTAGGAACAGCCAGGCGGGAGT...
ENST00000270349.11:c.653+1666_653+1667insTAGGAACAGCCAGGCGGGAGTTGA ENSP00000270349.9:n.653+1666_653+1667insTAGGAACAGCCAGGCGGGAGT...
NM_001044.4:c.653+1666_653+1667insTAGGAACAGCCAGGCGGGAGTTGA NP_001035.1:n.653+1666_653+1667insTAGGAACAGCCAGGCGGGAGTTGA
NM_001044.5:c.653+1666_653+1667insTAGGAACAGCCAGGCGGGAGTTGA MANE Select NP_001035.1:n.653+1666_653+1667insTAGGAACAGCCAGGCGGGAGTTGA
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