Canonical Allele Identifier: CA1072524489

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414446-G-GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCT
• gnomAD v4: 5-1414446-G-GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414468_1414469insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGC , CM000667.2:g.1414468_1414469insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGC	GRCh38
NC_000005.9:g.1414583_1414584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGC , CM000667.1:g.1414583_1414584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGC	GRCh37
NC_000005.8:g.1467583_1467584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGC	NCBI36
NG_015885.1:g.35982_35983insAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCC MANE Select	ENSP00000270349.9:n.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTT...
ENST00000270349.11:c.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCC	ENSP00000270349.9:n.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTT...
NM_001044.4:c.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCC	NP_001035.1:n.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTTCCCCGC...
NM_001044.5:c.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCC MANE Select	NP_001035.1:n.1156+244_1156+245insAGGCCCCCCACCCAGCGCCTTCCCCGC...