Canonical Allele Identifier: CA1072522691

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414415-G-GCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGT
• gnomAD v4: 5-1414415-G-GCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414423_1414424insGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCGG , CM000667.2:g.1414423_1414424insGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCGG	GRCh38
NC_000005.9:g.1414538_1414539insGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCGG , CM000667.1:g.1414538_1414539insGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCGG	GRCh37
NC_000005.8:g.1467538_1467539insGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCGG	NCBI36
NG_015885.1:g.36013_36014insACCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTG MANE Select	ENSP00000270349.9:n.1156+275_1156+276insACCCTCCCGGCCCCCCACCCA...
ENST00000270349.11:c.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTG	ENSP00000270349.9:n.1156+275_1156+276insACCCTCCCGGCCCCCCACCCA...
NM_001044.4:c.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTG	NP_001035.1:n.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGCGCCT...
NM_001044.5:c.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTG MANE Select	NP_001035.1:n.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGCGCCT...