Canonical Allele Identifier: CA1072525787

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC	GRCh38
NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC	GRCh37
NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC	NCBI36
NG_015885.1:g.35959_35960insTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG

Transcript Alleles

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