Canonical Allele Identifier: CA1072525993
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414484-T-TAGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCG
gnomAD v4: 5-1414484-T-TAGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414484_1414485insAGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCG , CM000667.2:g.1414484_1414485insAGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCG GRCh38
NC_000005.9:g.1414599_1414600insAGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCG , CM000667.1:g.1414599_1414600insAGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCG GRCh37
NC_000005.8:g.1467599_1467600insAGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCG NCBI36
NG_015885.1:g.35944_35945insCGGCCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+206_1156+207insCGGCCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCT MANE Select ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCCCCACCCAGTGCCT...
ENST00000270349.11:c.1156+206_1156+207insCGGCCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCT ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCCCCACCCAGTGCCT...
NM_001044.4:c.1156+206_1156+207insCGGCCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCT NP_001035.1:n.1156+206_1156+207insCGGCCCCCCCACCCAGTGCCTTCCCCG...
NM_001044.5:c.1156+206_1156+207insCGGCCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCT MANE Select NP_001035.1:n.1156+206_1156+207insCGGCCCCCCCACCCAGTGCCTTCCCCG...
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