Canonical Allele Identifier: CA2590929599
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414507-G-GGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCA
gnomAD v4: 5-1414507-G-GGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414507_1414508insGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCA , CM000667.2:g.1414507_1414508insGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCA GRCh38
NC_000005.9:g.1414622_1414623insGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCA , CM000667.1:g.1414622_1414623insGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCA GRCh37
NC_000005.8:g.1467622_1467623insGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCA NCBI36
NG_015885.1:g.35921_35922insTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+183_1156+184insTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACC MANE Select ENSP00000270349.9:n.1156+183_1156+184insTGCCTTCTCCGCCCTGCCCCT...
ENST00000270349.11:c.1156+183_1156+184insTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACC ENSP00000270349.9:n.1156+183_1156+184insTGCCTTCTCCGCCCTGCCCCT...
NM_001044.4:c.1156+183_1156+184insTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACC NP_001035.1:n.1156+183_1156+184insTGCCTTCTCCGCCCTGCCCCTCCCGGC...
NM_001044.5:c.1156+183_1156+184insTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACC MANE Select NP_001035.1:n.1156+183_1156+184insTGCCTTCTCCGCCCTGCCCCTCCCGGC...
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