Canonical Allele Identifier: CA1072524757
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756215404
gnomAD v3: 5-1414460-G-GCTGGGTGGGGGGCCTGGAGGGGCAGGGAA
gnomAD v4: 5-1414460-G-GCTGGGTGGGGGGCCTGGAGGGGCAGGGAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414460_1414461insCTGGGTGGGGGGCCTGGAGGGGCAGGGAA , CM000667.2:g.1414460_1414461insCTGGGTGGGGGGCCTGGAGGGGCAGGGAA GRCh38
NC_000005.9:g.1414575_1414576insCTGGGTGGGGGGCCTGGAGGGGCAGGGAA , CM000667.1:g.1414575_1414576insCTGGGTGGGGGGCCTGGAGGGGCAGGGAA GRCh37
NC_000005.8:g.1467575_1467576insCTGGGTGGGGGGCCTGGAGGGGCAGGGAA NCBI36
NG_015885.1:g.35968_35969insTTCCCTGCCCCTCCAGGCCCCCCACCCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCCCCACCCAG MANE Select ENSP00000270349.9:n.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCC...
ENST00000270349.11:c.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCCCCACCCAG ENSP00000270349.9:n.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCC...
NM_001044.4:c.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCCCCACCCAG NP_001035.1:n.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCCCCACCC...
NM_001044.5:c.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCCCCACCCAG MANE Select NP_001035.1:n.1156+230_1156+231insTTCCCTGCCCCTCCAGGCCCCCCACCC...
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