Canonical Allele Identifier: CA1072524848
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414462-G-GGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGA
gnomAD v4: 5-1414462-G-GGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414468_1414469insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGC , CM000667.2:g.1414468_1414469insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGC GRCh38
NC_000005.9:g.1414583_1414584insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGC , CM000667.1:g.1414583_1414584insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGC GRCh37
NC_000005.8:g.1467583_1467584insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGC NCBI36
NG_015885.1:g.35966_35967insTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+228_1156+229insTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC MANE Select ENSP00000270349.9:n.1156+228_1156+229insTCCGCCCTGCCCCTCCAGGCC...
ENST00000270349.11:c.1156+228_1156+229insTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC ENSP00000270349.9:n.1156+228_1156+229insTCCGCCCTGCCCCTCCAGGCC...
NM_001044.4:c.1156+228_1156+229insTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC NP_001035.1:n.1156+228_1156+229insTCCGCCCTGCCCCTCCAGGCCCCCCAC...
NM_001044.5:c.1156+228_1156+229insTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC MANE Select NP_001035.1:n.1156+228_1156+229insTCCGCCCTGCCCCTCCAGGCCCCCCAC...
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