Canonical Allele Identifier: CA1072527515
Gene: SLC6A3 HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414508_1414509insGGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCAC , CM000667.2:g.1414508_1414509insGGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCAC GRCh38
NC_000005.9:g.1414623_1414624insGGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCAC , CM000667.1:g.1414623_1414624insGGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCAC GRCh37
NC_000005.8:g.1467623_1467624insGGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCAC NCBI36
NG_015885.1:g.35921_35922insTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCCG

Transcript Alleles

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