Canonical Allele Identifier: CA342090

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 21448
• ClinVar RCV Id: RCV000020635 ; RCV000623073 ; RCV000479265
• 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

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