Canonical Allele Identifier: CA1072526582

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756221910
• gnomAD v3: 5-1414491-T-TCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGG
• gnomAD v4: 5-1414491-T-TCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414497_1414498insAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.2:g.1414497_1414498insAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC	GRCh38
NC_000005.9:g.1414612_1414613insAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.1:g.1414612_1414613insAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC	GRCh37
NC_000005.8:g.1467612_1467613insAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC	NCBI36
NG_015885.1:g.35937_35938insCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTG

Transcript Alleles

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