Canonical Allele Identifier: CA1072524244
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414431-A-ACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCG
gnomAD v4: 5-1414431-A-ACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414445_1414446insTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC , CM000667.2:g.1414445_1414446insTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC GRCh38
NC_000005.9:g.1414560_1414561insTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC , CM000667.1:g.1414560_1414561insTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC GRCh37
NC_000005.8:g.1467560_1467561insTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCC NCBI36
NG_015885.1:g.35997_35998insCGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAG MANE Select ENSP00000270349.9:n.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCT...
ENST00000270349.11:c.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAG ENSP00000270349.9:n.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCT...
NM_001044.4:c.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAG NP_001035.1:n.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCTCCAGGC...
NM_001044.5:c.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAG MANE Select NP_001035.1:n.1156+259_1156+260insCGCCTTCCCTTCCCTGCCCCTCCAGGC...
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