Canonical Allele Identifier: CA1072523917

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414459_1414460insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.2:g.1414459_1414460insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC	GRCh38
NC_000005.9:g.1414574_1414575insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.1:g.1414574_1414575insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC	GRCh37
NC_000005.8:g.1467574_1467575insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC	NCBI36
NG_015885.1:g.36004_36005insCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC

Transcript Alleles

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