Canonical Allele Identifier: CA557858899
Gene: SLC6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2885112
ClinVar RCV Id: RCV003759632
dbSNP Id: rs1560923593
gnomAD v2: 5-1432828-GA-G
gnomAD v4: 5-1432713-GA-G
MyVariant Identifiers: chr5:g.1432829del (hg19) chr5:g.1432714del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1432714del , CM000667.2:g.1432714del GRCh38
NC_000005.9:g.1432829del , CM000667.1:g.1432829del GRCh37
NC_000005.8:g.1485829del NCBI36
NG_015885.1:g.17715del

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.419-16del MANE Select ENSP00000270349.9:n.419-16del
ENST00000270349.11:c.419-16del ENSP00000270349.9:n.419-16del
NM_001044.4:c.419-16del NP_001035.1:n.419-16del
NM_001044.5:c.419-16del MANE Select NP_001035.1:n.419-16del
Search 100 bp 5'
Search 100 bp 3'