Canonical Allele Identifier: CA557565978

Gene: SLC6A3

Linked Data

• gnomAD v2: 5-1414494-A-AGGCAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAG
• MyVariant Identifiers: chr5:g.1414494_1414495insGGCAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAG (hg19) ; chr5:g.1414379_1414380insGGCAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414407_1414408insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCC , CM000667.2:g.1414407_1414408insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCC	GRCh38
NC_000005.9:g.1414522_1414523insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCC , CM000667.1:g.1414522_1414523insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCC	GRCh37
NC_000005.8:g.1467522_1467523insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCC	NCBI36
NG_015885.1:g.36049_36050insCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCCTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+311_1156+312insCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCCTGCC MANE Select	ENSP00000270349.9:n.1156+311_1156+312insCTGCCCCTCCCGGCCCCCCCA...
ENST00000270349.11:c.1156+311_1156+312insCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCCTGCC	ENSP00000270349.9:n.1156+311_1156+312insCTGCCCCTCCCGGCCCCCCCA...
NM_001044.4:c.1156+311_1156+312insCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCCTGCC	NP_001035.1:n.1156+311_1156+312insCTGCCCCTCCCGGCCCCCCCACCCAGT...
NM_001044.5:c.1156+311_1156+312insCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCCTGCC MANE Select	NP_001035.1:n.1156+311_1156+312insCTGCCCCTCCCGGCCCCCCCACCCAGT...