Canonical Allele Identifier: CA1072524063

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414424-A-AAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG
• gnomAD v4: 5-1414424-A-AAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414424_1414425insAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG , CM000667.2:g.1414424_1414425insAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG	GRCh38
NC_000005.9:g.1414539_1414540insAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG , CM000667.1:g.1414539_1414540insAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG	GRCh37
NC_000005.8:g.1467539_1467540insAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGG	NCBI36
NG_015885.1:g.36004_36005insCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCT MANE Select	ENSP00000270349.9:n.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCC...
ENST00000270349.11:c.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCT	ENSP00000270349.9:n.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCC...
NM_001044.4:c.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCT	NP_001035.1:n.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCCCCCCAC...
NM_001044.5:c.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCT MANE Select	NP_001035.1:n.1156+266_1156+267insCCTTCCCTGCCCCTCCAGGCCCCCCAC...