Canonical Allele Identifier: CA2590929311

Gene: SLC6A3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414490_1414491insGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG , CM000667.2:g.1414490_1414491insGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG	GRCh38
NC_000005.9:g.1414605_1414606insGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG , CM000667.1:g.1414605_1414606insGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG	GRCh37
NC_000005.8:g.1467605_1467606insGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGG	NCBI36
NG_015885.1:g.35959_35960insTGCCTTCCCCGCCCTGACCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAG

Transcript Alleles

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