Canonical Allele Identifier: CA1072525505
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756217897
gnomAD v3: 5-1414469-G-GCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCA
gnomAD v4: 5-1414469-G-GCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCC NCBI36
NG_015885.1:g.35959_35960insTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCT...
ENST00000270349.11:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAG ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCT...
NM_001044.4:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAG NP_001035.1:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCCGGC...
NM_001044.5:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select NP_001035.1:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCCGGC...
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