Canonical Allele Identifier: CA804832145
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1395173576
gnomAD v3: 5-1423570-TCGCAGTTC-T
gnomAD v4: 5-1423570-TCGCAGTTC-T
MyVariant Identifiers: chr5:g.1423686_1423693del (hg19) chr5:g.1423571_1423578del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1423572_1423579del , CM000667.2:g.1423572_1423579del GRCh38
NC_000005.9:g.1423687_1423694del , CM000667.1:g.1423687_1423694del GRCh37
NC_000005.8:g.1476687_1476694del NCBI36
NG_015885.1:g.26851_26858del

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.654-1564_654-1557del MANE Select ENSP00000270349.9:n.654-1564_654-1557del
ENST00000270349.11:c.654-1564_654-1557del ENSP00000270349.9:n.654-1564_654-1557del
NM_001044.4:c.654-1564_654-1557del NP_001035.1:n.654-1564_654-1557del
NM_001044.5:c.654-1564_654-1557del MANE Select NP_001035.1:n.654-1564_654-1557del
Search 100 bp 5'
Search 100 bp 3'