Canonical Allele Identifier: CA1072522619

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414443_1414444insGCCTGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGG , CM000667.2:g.1414443_1414444insGCCTGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGG	GRCh38
NC_000005.9:g.1414558_1414559insGCCTGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGG , CM000667.1:g.1414558_1414559insGCCTGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGG	GRCh37
NC_000005.8:g.1467558_1467559insGCCTGGAGGGTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGG	NCBI36
NG_015885.1:g.36020_36021insCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCAGGCCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCC

Transcript Alleles

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