Canonical Allele Identifier: CA1072526562

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414491-T-TCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGG
• gnomAD v4: 5-1414491-T-TCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414506_1414507insACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGC , CM000667.2:g.1414506_1414507insACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGC	GRCh38
NC_000005.9:g.1414621_1414622insACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGC , CM000667.1:g.1414621_1414622insACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGC	GRCh37
NC_000005.8:g.1467621_1467622insACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGC	NCBI36
NG_015885.1:g.35937_35938insCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTG MANE Select	ENSP00000270349.9:n.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCA...
ENST00000270349.11:c.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTG	ENSP00000270349.9:n.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCA...
NM_001044.4:c.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTG	NP_001035.1:n.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCAGTGCCT...
NM_001044.5:c.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTG MANE Select	NP_001035.1:n.1156+199_1156+200insCCCCTCCAGGCCCCCCACCCAGTGCCT...