Canonical Allele Identifier: CA1072524756
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414460-G-GCTGGGTGGGGGGCCGGGAGGGGCAGGGCA
gnomAD v4: 5-1414460-G-GCTGGGTGGGGGGCCGGGAGGGGCAGGGCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414460_1414461insCTGGGTGGGGGGCCGGGAGGGGCAGGGCA , CM000667.2:g.1414460_1414461insCTGGGTGGGGGGCCGGGAGGGGCAGGGCA GRCh38
NC_000005.9:g.1414575_1414576insCTGGGTGGGGGGCCGGGAGGGGCAGGGCA , CM000667.1:g.1414575_1414576insCTGGGTGGGGGGCCGGGAGGGGCAGGGCA GRCh37
NC_000005.8:g.1467575_1467576insCTGGGTGGGGGGCCGGGAGGGGCAGGGCA NCBI36
NG_015885.1:g.35968_35969insTGCCCTGCCCCTCCCGGCCCCCCACCCAG

Transcript Alleles

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