Canonical Allele Identifier: CA2590929207

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414449-A-AGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGG
• gnomAD v4: 5-1414449-A-AGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414468_1414469insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCAGGGCGGGGAAGGC , CM000667.2:g.1414468_1414469insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCAGGGCGGGGAAGGC	GRCh38
NC_000005.9:g.1414583_1414584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCAGGGCGGGGAAGGC , CM000667.1:g.1414583_1414584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCAGGGCGGGGAAGGC	GRCh37
NC_000005.8:g.1467583_1467584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCAGGGCGGGGAAGGC	NCBI36
NG_015885.1:g.35979_35980insCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+241_1156+242insCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC MANE Select	ENSP00000270349.9:n.1156+241_1156+242insCCACCCAGTGCCTTCCCCGCC...
ENST00000270349.11:c.1156+241_1156+242insCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC	ENSP00000270349.9:n.1156+241_1156+242insCCACCCAGTGCCTTCCCCGCC...
NM_001044.4:c.1156+241_1156+242insCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC	NP_001035.1:n.1156+241_1156+242insCCACCCAGTGCCTTCCCCGCCCTGCCC...
NM_001044.5:c.1156+241_1156+242insCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC MANE Select	NP_001035.1:n.1156+241_1156+242insCCACCCAGTGCCTTCCCCGCCCTGCCC...