Canonical Allele Identifier: CA557566045
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560912956
gnomAD v2: 5-1414577-G-GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGA
gnomAD v3: 5-1414462-G-GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGA
gnomAD v4: 5-1414462-G-GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGA
MyVariant Identifiers: chr5:g.1414577_1414578insGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGA (hg19) chr5:g.1414462_1414463insGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414468_1414469insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC , CM000667.2:g.1414468_1414469insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC GRCh38
NC_000005.9:g.1414583_1414584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC , CM000667.1:g.1414583_1414584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC GRCh37
NC_000005.8:g.1467583_1467584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC NCBI36
NG_015885.1:g.35966_35967insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC

Transcript Alleles

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