Canonical Allele Identifier: CA342090
Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 21448
ClinVar RCV Id: RCV000020635 RCV000479265 RCV000623073
dbSNP Id: rs80338739
MyVariant Identifiers: chrX:g.152955888_152955890del (hg19) chrX:g.153690433_153690435del (hg38)
PubMed: PMID:10893433 PMID:15154114 PMID:15234334 PMID:16738945 PMID:17465020 PMID:20301745 PMID:20528887 PMID:20846889 PMID:23644449 PMID:24137762 PMID:24190795 PMID:27081545 PMID:28065824
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690433_153690435del , CM000685.2:g.153690433_153690435del GRCh38
NC_000023.10:g.152955888_152955890del , CM000685.1:g.152955888_152955890del GRCh37
NC_000023.9:g.152609082_152609084del NCBI36
NG_012016.1:g.7137_7139del
NG_012016.2:g.7137_7139del

Transcript Alleles

HGVS Amino-acid change
ENST00000253122.10:c.321_323del MANE Select ENSP00000253122.5:p.Phe107del
ENST00000675713.1:n.75_77del
ENST00000253122.9:c.321_323del ENSP00000253122.5:p.Phe107del
ENST00000430077.6:c.-25_-23del ENSP00000403041.2:n.-25_-23del
ENST00000476466.1:n.173_175del
NM_001142805.1:c.321_323del NP_001136277.1:p.Phe107del
NM_001142806.1:c.-25_-23del NP_001136278.1:n.-25_-23del
NM_005629.3:c.321_323del NP_005620.1:p.Phe107del
NM_005629.4:c.321_323del MANE Select NP_005620.1:p.Phe107del
NM_001142805.2:c.321_323del NP_001136277.1:p.Phe107del
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