Canonical Allele Identifier: CA1072525301

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756217115
• gnomAD v3: 5-1414469-G-GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA
• gnomAD v4: 5-1414469-G-GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414469_1414470insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA , CM000667.2:g.1414469_1414470insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA	GRCh38
NC_000005.9:g.1414584_1414585insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA , CM000667.1:g.1414584_1414585insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA	GRCh37
NC_000005.8:g.1467584_1467585insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA	NCBI36
NG_015885.1:g.35959_35960insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC MANE Select	ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCT...
ENST00000270349.11:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC	ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCT...
NM_001044.4:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC	NP_001035.1:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGC...
NM_001044.5:c.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC MANE Select	NP_001035.1:n.1156+221_1156+222insTGCCTTCTCCGCCCTGCCCCTCCAGGC...