Canonical Allele Identifier: CA10603605
Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 280650
ClinVar RCV Id: RCV000331831
dbSNP Id: rs886041818
MyVariant Identifiers: chrX:g.152959620_152959639del (hg19) chrX:g.153694165_153694184del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694165_153694184del , CM000685.2:g.153694165_153694184del GRCh38
NC_000023.10:g.152959620_152959639del , CM000685.1:g.152959620_152959639del GRCh37
NC_000023.9:g.152612814_152612833del NCBI36
NG_012016.1:g.10869_10888del
NG_012016.2:g.10869_10888del

Transcript Alleles

HGVS Amino-acid change
ENST00000253122.10:c.1290_1309del MANE Select ENSP00000253122.5:p.Asp431LeufsTer27
ENST00000253122.9:c.1290_1309del ENSP00000253122.5:p.Asp431LeufsTer27
ENST00000413787.1:c.258-39_258-20del ENSP00000400463.1:n.258-39_258-20del
ENST00000430077.6:c.945_964del ENSP00000403041.2:p.Asp316LeufsTer27
ENST00000442457.1:c.344_363del
ENST00000485324.1:n.1435_1454del
NM_001142805.1:c.1260_1279del NP_001136277.1:p.Asp421LeufsTer27
NM_001142806.1:c.945_964del NP_001136278.1:p.Asp316LeufsTer27
NM_005629.3:c.1290_1309del NP_005620.1:p.Asp431LeufsTer27
NM_005629.4:c.1290_1309del MANE Select NP_005620.1:p.Asp431LeufsTer27
NM_001142805.2:c.1260_1279del NP_001136277.1:p.Asp421LeufsTer27
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