Canonical Allele Identifier: CA557566083

Gene: SLC6A3

Linked Data

• gnomAD v2: 5-1414611-G-GTGGAGAAGGCACTGGGTGGGGGGC
• gnomAD v3: 5-1414496-G-GTGGAGAAGGCACTGGGTGGGGGGC
• gnomAD v4: 5-1414496-G-GTGGAGAAGGCACTGGGTGGGGGGC
• MyVariant Identifiers: chr5:g.1414611_1414612insTGGAGAAGGCACTGGGTGGGGGGC (hg19) ; chr5:g.1414496_1414497insTGGAGAAGGCACTGGGTGGGGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414496_1414497insTGGAGAAGGCACTGGGTGGGGGGC , CM000667.2:g.1414496_1414497insTGGAGAAGGCACTGGGTGGGGGGC	GRCh38
NC_000005.9:g.1414611_1414612insTGGAGAAGGCACTGGGTGGGGGGC , CM000667.1:g.1414611_1414612insTGGAGAAGGCACTGGGTGGGGGGC	GRCh37
NC_000005.8:g.1467611_1467612insTGGAGAAGGCACTGGGTGGGGGGC	NCBI36
NG_015885.1:g.35932_35933insGCCCCCCACCCAGTGCCTTCTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+194_1156+195insGCCCCCCACCCAGTGCCTTCTCCA MANE Select	ENSP00000270349.9:n.1156+194_1156+195insGCCCCCCACCCAGTGCCTTCT...
ENST00000270349.11:c.1156+194_1156+195insGCCCCCCACCCAGTGCCTTCTCCA	ENSP00000270349.9:n.1156+194_1156+195insGCCCCCCACCCAGTGCCTTCT...
NM_001044.4:c.1156+194_1156+195insGCCCCCCACCCAGTGCCTTCTCCA	NP_001035.1:n.1156+194_1156+195insGCCCCCCACCCAGTGCCTTCTCCA
NM_001044.5:c.1156+194_1156+195insGCCCCCCACCCAGTGCCTTCTCCA MANE Select	NP_001035.1:n.1156+194_1156+195insGCCCCCCACCCAGTGCCTTCTCCA