Canonical Allele Identifier: CA557565996

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1560912794
• gnomAD v2: 5-1414521-C-CCGGGAGGGGCAGGGCGGAGAAGGCA
• gnomAD v3: 5-1414406-C-CCGGGAGGGGCAGGGCGGAGAAGGCA
• gnomAD v4: 5-1414406-C-CCGGGAGGGGCAGGGCGGAGAAGGCA
• MyVariant Identifiers: chr5:g.1414521_1414522insCGGGAGGGGCAGGGCGGAGAAGGCA (hg19) ; chr5:g.1414406_1414407insCGGGAGGGGCAGGGCGGAGAAGGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414407_1414408insGGGAGGGGCAGGGCGGAGAAGGCAC , CM000667.2:g.1414407_1414408insGGGAGGGGCAGGGCGGAGAAGGCAC	GRCh38
NC_000005.9:g.1414522_1414523insGGGAGGGGCAGGGCGGAGAAGGCAC , CM000667.1:g.1414522_1414523insGGGAGGGGCAGGGCGGAGAAGGCAC	GRCh37
NC_000005.8:g.1467522_1467523insGGGAGGGGCAGGGCGGAGAAGGCAC	NCBI36
NG_015885.1:g.36022_36023insTGCCTTCTCCGCCCTGCCCCTCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+284_1156+285insTGCCTTCTCCGCCCTGCCCCTCCCG MANE Select	ENSP00000270349.9:n.1156+284_1156+285insTGCCTTCTCCGCCCTGCCCCT...
ENST00000270349.11:c.1156+284_1156+285insTGCCTTCTCCGCCCTGCCCCTCCCG	ENSP00000270349.9:n.1156+284_1156+285insTGCCTTCTCCGCCCTGCCCCT...
NM_001044.4:c.1156+284_1156+285insTGCCTTCTCCGCCCTGCCCCTCCCG	NP_001035.1:n.1156+284_1156+285insTGCCTTCTCCGCCCTGCCCCTCCCG
NM_001044.5:c.1156+284_1156+285insTGCCTTCTCCGCCCTGCCCCTCCCG MANE Select	NP_001035.1:n.1156+284_1156+285insTGCCTTCTCCGCCCTGCCCCTCCCG