Canonical Allele Identifier: CA1072522567

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756207537
• gnomAD v3: 5-1414408-T-TGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCG
• gnomAD v4: 5-1414408-T-TGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414410_1414411insGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGG , CM000667.2:g.1414410_1414411insGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGG	GRCh38
NC_000005.9:g.1414525_1414526insGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGG , CM000667.1:g.1414525_1414526insGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGG	GRCh37
NC_000005.8:g.1467525_1467526insGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGG	NCBI36
NG_015885.1:g.36020_36021insCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCC

Transcript Alleles

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