Canonical Allele Identifier: CA1072523859

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414424-A-AAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGG
• gnomAD v4: 5-1414424-A-AAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414424_1414425insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGG , CM000667.2:g.1414424_1414425insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGG	GRCh38
NC_000005.9:g.1414539_1414540insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGG , CM000667.1:g.1414539_1414540insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGG	GRCh37
NC_000005.8:g.1467539_1467540insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGG	NCBI36
NG_015885.1:g.36004_36005insCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT

Transcript Alleles

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