Canonical Allele Identifier: CA1072522620
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756207905
gnomAD v3: 5-1414408-T-TGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGGGCCG
gnomAD v4: 5-1414408-T-TGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGGGCCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414430_1414431insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC , CM000667.2:g.1414430_1414431insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC GRCh38
NC_000005.9:g.1414545_1414546insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC , CM000667.1:g.1414545_1414546insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC GRCh37
NC_000005.8:g.1467545_1467546insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC NCBI36
NG_015885.1:g.36020_36021insCGGCCCCCCACCCAGCGCCTTCTCCGCCCTGCCCCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+282_1156+283insCGGCCCCCCACCCAGCGCCTTCTCCGCCCTGCCCCTCC MANE Select ENSP00000270349.9:n.1156+282_1156+283insCGGCCCCCCACCCAGCGCCTT...
ENST00000270349.11:c.1156+282_1156+283insCGGCCCCCCACCCAGCGCCTTCTCCGCCCTGCCCCTCC ENSP00000270349.9:n.1156+282_1156+283insCGGCCCCCCACCCAGCGCCTT...
NM_001044.4:c.1156+282_1156+283insCGGCCCCCCACCCAGCGCCTTCTCCGCCCTGCCCCTCC NP_001035.1:n.1156+282_1156+283insCGGCCCCCCACCCAGCGCCTTCTCCGC...
NM_001044.5:c.1156+282_1156+283insCGGCCCCCCACCCAGCGCCTTCTCCGCCCTGCCCCTCC MANE Select NP_001035.1:n.1156+282_1156+283insCGGCCCCCCACCCAGCGCCTTCTCCGC...
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