Canonical Allele Identifier: CA1072525300

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414469-G-GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCA
• gnomAD v4: 5-1414469-G-GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414469_1414470insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCA , CM000667.2:g.1414469_1414470insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCA	GRCh38
NC_000005.9:g.1414584_1414585insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCA , CM000667.1:g.1414584_1414585insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCA	GRCh37
NC_000005.8:g.1467584_1467585insGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCA	NCBI36
NG_015885.1:g.35959_35960insTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC

Transcript Alleles

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