Canonical Allele Identifier: CA2579925623

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 2500927
• ClinVar RCV Id: RCV003226112

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693915_153693919dup , CM000685.2:g.153693915_153693919dup	GRCh38
NC_000023.10:g.152959370_152959374dup , CM000685.1:g.152959370_152959374dup	GRCh37
NC_000023.9:g.152612564_152612568dup	NCBI36
NG_012016.1:g.10619_10623dup
NG_012016.2:g.10619_10623dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1152_1156dup MANE Select	ENSP00000253122.5:p.Phe386TrpfsTer12
ENST00000253122.9:c.1152_1156dup	ENSP00000253122.5:p.Phe386TrpfsTer12
ENST00000413787.1:c.258-289_258-285dup	ENSP00000400463.1:n.258-289_258-285dup
ENST00000430077.6:c.807_811dup	ENSP00000403041.2:p.Phe271TrpfsTer12
ENST00000442457.1:c.206_210dup
ENST00000457723.1:c.136_140dup	ENSP00000394742.1:p.His48AlafsTer?
ENST00000467402.1:n.251_255dup
ENST00000485324.1:n.1185_1189dup
NM_001142805.1:c.1122_1126dup	NP_001136277.1:p.Phe376TrpfsTer12
NM_001142806.1:c.807_811dup	NP_001136278.1:p.Phe271TrpfsTer12
NM_005629.3:c.1152_1156dup	NP_005620.1:p.Phe386TrpfsTer12
NM_005629.4:c.1152_1156dup MANE Select	NP_005620.1:p.Phe386TrpfsTer12
NM_001142805.2:c.1122_1126dup	NP_001136277.1:p.Phe376TrpfsTer12