Canonical Allele Identifier: CA2590929353

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414484-T-TGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCG
• gnomAD v4: 5-1414484-T-TGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414490_1414491insGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGG , CM000667.2:g.1414490_1414491insGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGG	GRCh38
NC_000005.9:g.1414605_1414606insGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGG , CM000667.1:g.1414605_1414606insGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGG	GRCh37
NC_000005.8:g.1467605_1467606insGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGG	NCBI36
NG_015885.1:g.35944_35945insCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCC MANE Select	ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTT...
ENST00000270349.11:c.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCC	ENSP00000270349.9:n.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTT...
NM_001044.4:c.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCC	NP_001035.1:n.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTGC...
NM_001044.5:c.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCC MANE Select	NP_001035.1:n.1156+206_1156+207insCGGCCCCCCACCCAGTGCCTTCCCTGC...