Canonical Allele Identifier: CA557566015
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560912854
gnomAD v2: 5-1414537-G-GGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCA
gnomAD v3: 5-1414422-G-GGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCA
gnomAD v4: 5-1414422-G-GGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCA
MyVariant Identifiers: chr5:g.1414537_1414538insGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCA (hg19) chr5:g.1414422_1414423insGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414459_1414460insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.2:g.1414459_1414460insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GRCh38
NC_000005.9:g.1414574_1414575insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.1:g.1414574_1414575insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GRCh37
NC_000005.8:g.1467574_1467575insAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC NCBI36
NG_015885.1:g.36006_36007insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC MANE Select ENSP00000270349.9:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCC...
ENST00000270349.11:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC ENSP00000270349.9:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCC...
NM_001044.4:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC NP_001035.1:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCC...
NM_001044.5:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC MANE Select NP_001035.1:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCACCC...
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