Canonical Allele Identifier: CA557569333
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1489826583
gnomAD v2: 5-1423663-ACT-A
gnomAD v3: 5-1423548-ACT-A
gnomAD v4: 5-1423548-ACT-A
MyVariant Identifiers: chr5:g.1423664_1423665del (hg19) chr5:g.1423549_1423550del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1423551_1423552del , CM000667.2:g.1423551_1423552del GRCh38
NC_000005.9:g.1423666_1423667del , CM000667.1:g.1423666_1423667del GRCh37
NC_000005.8:g.1476666_1476667del NCBI36
NG_015885.1:g.26879_26880del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.654-1536_654-1535del MANE Select ENSP00000270349.9:n.654-1536_654-1535del
ENST00000270349.11:c.654-1536_654-1535del ENSP00000270349.9:n.654-1536_654-1535del
NM_001044.4:c.654-1536_654-1535del NP_001035.1:n.654-1536_654-1535del
NM_001044.5:c.654-1536_654-1535del MANE Select NP_001035.1:n.654-1536_654-1535del
Search 100 bp 5'
Search 100 bp 3'