Canonical Allele Identifier: CA1072524776
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756215479
gnomAD v3: 5-1414460-G-GGAGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCA
gnomAD v4: 5-1414460-G-GGAGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414461_1414462insAGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCAG , CM000667.2:g.1414461_1414462insAGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCAG GRCh38
NC_000005.9:g.1414576_1414577insAGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCAG , CM000667.1:g.1414576_1414577insAGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCAG GRCh37
NC_000005.8:g.1467576_1467577insAGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCAG NCBI36
NG_015885.1:g.35968_35969insTGCCCTGACCCTCCCGGCCCCCCACCCAGTGCCTTCTC

Transcript Alleles

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