Canonical Allele Identifier: CA1072526002
Gene: SLC6A3 HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414490_1414491insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGG , CM000667.2:g.1414490_1414491insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGG GRCh38
NC_000005.9:g.1414605_1414606insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGG , CM000667.1:g.1414605_1414606insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGG GRCh37
NC_000005.8:g.1467605_1467606insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGG NCBI36
NG_015885.1:g.35944_35945insCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCC

Transcript Alleles

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