Canonical Allele Identifier: CA2590929297

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC	GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC	GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC	NCBI36
NG_015885.1:g.35959_35960insTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAG

Transcript Alleles

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