Canonical Allele Identifier: CA915952141
Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 817103
ClinVar RCV Id: RCV001008204
dbSNP Id: rs1603214377

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690468del , CM000685.2:g.153690468del GRCh38
NC_000023.10:g.152955923del , CM000685.1:g.152955923del GRCh37
NC_000023.9:g.152609117del NCBI36
NG_012016.1:g.7172del
NG_012016.2:g.7172del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.356del MANE Select ENSP00000253122.5:p.Gly119AlafsTer21
ENST00000675713.1:n.110del
ENST00000253122.9:c.356del ENSP00000253122.5:p.Gly119AlafsTer21
ENST00000430077.6:c.11del ENSP00000403041.2:p.Gly4AlafsTer21
ENST00000476466.1:n.208del
NM_001142805.1:c.356del NP_001136277.1:p.Gly119AlafsTer21
NM_001142806.1:c.11del NP_001136278.1:p.Gly4AlafsTer21
NM_005629.3:c.356del NP_005620.1:p.Gly119AlafsTer21
NM_005629.4:c.356del MANE Select NP_005620.1:p.Gly119AlafsTer21
NM_001142805.2:c.356del NP_001136277.1:p.Gly119AlafsTer21