Canonical Allele Identifier: CA804783317
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1365025525
gnomAD v3: 5-1415558-TGAAA-T
gnomAD v4: 5-1415558-TGAAA-T
MyVariant Identifiers: chr5:g.1415674_1415677del (hg19) chr5:g.1415559_1415562del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1415564_1415567del , CM000667.2:g.1415564_1415567del GRCh38
NC_000005.9:g.1415679_1415682del , CM000667.1:g.1415679_1415682del GRCh37
NC_000005.8:g.1468679_1468682del NCBI36
NG_015885.1:g.34867_34870del

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.1031+536_1031+539del MANE Select ENSP00000270349.9:n.1031+536_1031+539del
ENST00000270349.11:c.1031+536_1031+539del ENSP00000270349.9:n.1031+536_1031+539del
ENST00000511750.1:n.481+536_481+539del
NM_001044.4:c.1031+536_1031+539del NP_001035.1:n.1031+536_1031+539del
NM_001044.5:c.1031+536_1031+539del MANE Select NP_001035.1:n.1031+536_1031+539del
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