Canonical Allele Identifier: CA1072524170

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414458_1414459insAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG , CM000667.2:g.1414458_1414459insAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG	GRCh38
NC_000005.9:g.1414573_1414574insAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG , CM000667.1:g.1414573_1414574insAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG	GRCh37
NC_000005.8:g.1467573_1467574insAAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG	NCBI36
NG_015885.1:g.36004_36005insCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC

Transcript Alleles

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