Canonical Allele Identifier: CA1072523806

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756210249
• gnomAD v3: 5-1414424-A-AAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG
• gnomAD v4: 5-1414424-A-AAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414424_1414425insAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG , CM000667.2:g.1414424_1414425insAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG	GRCh38
NC_000005.9:g.1414539_1414540insAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG , CM000667.1:g.1414539_1414540insAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG	GRCh37
NC_000005.8:g.1467539_1467540insAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG	NCBI36
NG_015885.1:g.36004_36005insCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+266_1156+267insCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTT MANE Select	ENSP00000270349.9:n.1156+266_1156+267insCCTTCCCTGCCCCTCCCGGCC...
ENST00000270349.11:c.1156+266_1156+267insCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTT	ENSP00000270349.9:n.1156+266_1156+267insCCTTCCCTGCCCCTCCCGGCC...
NM_001044.4:c.1156+266_1156+267insCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTT	NP_001035.1:n.1156+266_1156+267insCCTTCCCTGCCCCTCCCGGCCCCCCAC...
NM_001044.5:c.1156+266_1156+267insCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTT MANE Select	NP_001035.1:n.1156+266_1156+267insCCTTCCCTGCCCCTCCCGGCCCCCCAC...