Canonical Allele Identifier: CA1072526565
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756222169
gnomAD v3: 5-1414491-T-TCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGG
gnomAD v4: 5-1414491-T-TCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGG GRCh38
NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGG GRCh37
NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGG NCBI36
NG_015885.1:g.35937_35938insCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTG MANE Select ENSP00000270349.9:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCA...
ENST00000270349.11:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTG ENSP00000270349.9:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCA...
NM_001044.4:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTG NP_001035.1:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGCGCCT...
NM_001044.5:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTG MANE Select NP_001035.1:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGCGCCT...
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