Canonical Allele Identifier: CA1072527196

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414500-G-GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGA
• gnomAD v4: 5-1414500-G-GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414506_1414507insACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC , CM000667.2:g.1414506_1414507insACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC	GRCh38
NC_000005.9:g.1414621_1414622insACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC , CM000667.1:g.1414621_1414622insACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC	GRCh37
NC_000005.8:g.1467621_1467622insACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC	NCBI36
NG_015885.1:g.35928_35929insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC MANE Select	ENSP00000270349.9:n.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCC...
ENST00000270349.11:c.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC	ENSP00000270349.9:n.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCC...
NM_001044.4:c.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC	NP_001035.1:n.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCCCCCCAC...
NM_001044.5:c.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC MANE Select	NP_001035.1:n.1156+190_1156+191insTCCGCCCTGCCCCTCCCGGCCCCCCAC...