Canonical Allele Identifier: CA1072523466

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414425_1414426insGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGG , CM000667.2:g.1414425_1414426insGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGG	GRCh38
NC_000005.9:g.1414540_1414541insGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGG , CM000667.1:g.1414540_1414541insGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGG	GRCh37
NC_000005.8:g.1467540_1467541insGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGG	NCBI36
NG_015885.1:g.36004_36005insCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCC

Transcript Alleles

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