Canonical Allele Identifier: CA1072523882

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414459_1414460insAGGGAAGGCACTGGGTGGGGGACCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.2:g.1414459_1414460insAGGGAAGGCACTGGGTGGGGGACCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC	GRCh38
NC_000005.9:g.1414574_1414575insAGGGAAGGCACTGGGTGGGGGACCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.1:g.1414574_1414575insAGGGAAGGCACTGGGTGGGGGACCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC	GRCh37
NC_000005.8:g.1467574_1467575insAGGGAAGGCACTGGGTGGGGGACCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC	NCBI36
NG_015885.1:g.36004_36005insCCCGCCCTGCCCCTCCCGGTCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC

Transcript Alleles

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