Canonical Allele Identifier: CA1072522577

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414410_1414411insGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGG , CM000667.2:g.1414410_1414411insGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGG	GRCh38
NC_000005.9:g.1414525_1414526insGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGG , CM000667.1:g.1414525_1414526insGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGG	GRCh37
NC_000005.8:g.1467525_1467526insGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGG	NCBI36
NG_015885.1:g.36020_36021insCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCC

Transcript Alleles

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