Canonical Allele Identifier: CA2573159330

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1417554
• ClinVar RCV Id: RCV001951819
• dbSNP Id: rs2148363723

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693973del , CM000685.2:g.153693973del	GRCh38
NC_000023.10:g.152959428del , CM000685.1:g.152959428del	GRCh37
NC_000023.9:g.152612622del	NCBI36
NG_012016.1:g.10677del
NG_012016.2:g.10677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1210del MANE Select	ENSP00000253122.5:p.Ala404ProfsTer17
ENST00000253122.9:c.1210del	ENSP00000253122.5:p.Ala404ProfsTer17
ENST00000413787.1:c.258-231del	ENSP00000400463.1:n.258-231del
ENST00000430077.6:c.865del	ENSP00000403041.2:p.Ala289ProfsTer17
ENST00000442457.1:c.264del
ENST00000457723.1:c.194del	ENSP00000394742.1:p.Cys65SerfsTer?
ENST00000485324.1:n.1243del
NM_001142805.1:c.1180del	NP_001136277.1:p.Ala394ProfsTer17
NM_001142806.1:c.865del	NP_001136278.1:p.Ala289ProfsTer17
NM_005629.3:c.1210del	NP_005620.1:p.Ala404ProfsTer17
NM_005629.4:c.1210del MANE Select	NP_005620.1:p.Ala404ProfsTer17
NM_001142805.2:c.1180del	NP_001136277.1:p.Ala394ProfsTer17