Canonical Allele Identifier: CA2825002932

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 3165495
• ClinVar RCV Id: RCV004464346

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694222_153694223del , CM000685.2:g.153694222_153694223del	GRCh38
NC_000023.10:g.152959677_152959678del , CM000685.1:g.152959677_152959678del	GRCh37
NC_000023.9:g.152612871_152612872del	NCBI36
NG_012016.1:g.10926_10927del
NG_012016.2:g.10926_10927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1347_1348del MANE Select	ENSP00000253122.5:p.Cys450LeufsTer14
ENST00000253122.9:c.1347_1348del	ENSP00000253122.5:p.Cys450LeufsTer14
ENST00000413787.1:c.276_277del	ENSP00000400463.1:p.Cys93LeufsTer14
ENST00000430077.6:c.1002_1003del	ENSP00000403041.2:p.Cys335LeufsTer14
ENST00000442457.1:c.401_402del
ENST00000485324.1:n.1492_1493del
NM_001142805.1:c.1317_1318del	NP_001136277.1:p.Cys440LeufsTer14
NM_001142806.1:c.1002_1003del	NP_001136278.1:p.Cys335LeufsTer14
NM_005629.3:c.1347_1348del	NP_005620.1:p.Cys450LeufsTer14
NM_005629.4:c.1347_1348del MANE Select	NP_005620.1:p.Cys450LeufsTer14
NM_001142805.2:c.1317_1318del	NP_001136277.1:p.Cys440LeufsTer14