Canonical Allele Identifier: CA1072524508

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414459_1414460insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC , CM000667.2:g.1414459_1414460insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC	GRCh38
NC_000005.9:g.1414574_1414575insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC , CM000667.1:g.1414574_1414575insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC	GRCh37
NC_000005.8:g.1467574_1467575insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC	NCBI36
NG_015885.1:g.35982_35983insAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCC

Transcript Alleles

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