Canonical Allele Identifier: CA557566078
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1560913028
gnomAD v2: 5-1414605-G-GGCAGGGCAGGGAAGGCAC
gnomAD v3: 5-1414490-G-GGCAGGGCAGGGAAGGCAC
gnomAD v4: 5-1414490-G-GGCAGGGCAGGGAAGGCAC
MyVariant Identifiers: chr5:g.1414605_1414606insGCAGGGCAGGGAAGGCAC (hg19) chr5:g.1414490_1414491insGCAGGGCAGGGAAGGCAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414490_1414491insGCAGGGCAGGGAAGGCAC , CM000667.2:g.1414490_1414491insGCAGGGCAGGGAAGGCAC GRCh38
NC_000005.9:g.1414605_1414606insGCAGGGCAGGGAAGGCAC , CM000667.1:g.1414605_1414606insGCAGGGCAGGGAAGGCAC GRCh37
NC_000005.8:g.1467605_1467606insGCAGGGCAGGGAAGGCAC NCBI36
NG_015885.1:g.35938_35939insGTGCCTTCCCTGCCCTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+200_1156+201insGTGCCTTCCCTGCCCTGC MANE Select ENSP00000270349.9:n.1156+200_1156+201insGTGCCTTCCCTGCCCTGC
ENST00000270349.11:c.1156+200_1156+201insGTGCCTTCCCTGCCCTGC ENSP00000270349.9:n.1156+200_1156+201insGTGCCTTCCCTGCCCTGC
NM_001044.4:c.1156+200_1156+201insGTGCCTTCCCTGCCCTGC NP_001035.1:n.1156+200_1156+201insGTGCCTTCCCTGCCCTGC
NM_001044.5:c.1156+200_1156+201insGTGCCTTCCCTGCCCTGC MANE Select NP_001035.1:n.1156+200_1156+201insGTGCCTTCCCTGCCCTGC
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