Canonical Allele Identifier: CA1072522623

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414408-T-TGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCG
• gnomAD v4: 5-1414408-T-TGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414430_1414431insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC , CM000667.2:g.1414430_1414431insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC	GRCh38
NC_000005.9:g.1414545_1414546insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC , CM000667.1:g.1414545_1414546insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC	GRCh37
NC_000005.8:g.1467545_1467546insGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC	NCBI36
NG_015885.1:g.36020_36021insCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCTCCGCCCTGCCCCTCC

Transcript Alleles

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