Canonical Allele Identifier: CA2590929310

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414490_1414491insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG , CM000667.2:g.1414490_1414491insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG	GRCh38
NC_000005.9:g.1414605_1414606insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG , CM000667.1:g.1414605_1414606insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG	GRCh37
NC_000005.8:g.1467605_1467606insGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG	NCBI36
NG_015885.1:g.35959_35960insTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAG

Transcript Alleles

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