Canonical Allele Identifier: CA1072522636

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414423_1414424insGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGG , CM000667.2:g.1414423_1414424insGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGG	GRCh38
NC_000005.9:g.1414538_1414539insGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGG , CM000667.1:g.1414538_1414539insGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGG	GRCh37
NC_000005.8:g.1467538_1467539insGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGG	NCBI36
NG_015885.1:g.36020_36021insCGGCCCCCCACCCAGCGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCC

Transcript Alleles

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