Canonical Allele Identifier: CA557566082

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1560913036
• gnomAD v2: 5-1414611-G-GAAGGGAAGGCACTGGGTGGGGGGC
• gnomAD v3: 5-1414496-G-GAAGGGAAGGCACTGGGTGGGGGGC
• gnomAD v4: 5-1414496-G-GAAGGGAAGGCACTGGGTGGGGGGC
• MyVariant Identifiers: chr5:g.1414611_1414612insAAGGGAAGGCACTGGGTGGGGGGC (hg19) ; chr5:g.1414496_1414497insAAGGGAAGGCACTGGGTGGGGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414496_1414497insAAGGGAAGGCACTGGGTGGGGGGC , CM000667.2:g.1414496_1414497insAAGGGAAGGCACTGGGTGGGGGGC	GRCh38
NC_000005.9:g.1414611_1414612insAAGGGAAGGCACTGGGTGGGGGGC , CM000667.1:g.1414611_1414612insAAGGGAAGGCACTGGGTGGGGGGC	GRCh37
NC_000005.8:g.1467611_1467612insAAGGGAAGGCACTGGGTGGGGGGC	NCBI36
NG_015885.1:g.35932_35933insGCCCCCCACCCAGTGCCTTCCCTT

Transcript Alleles

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