Canonical Allele Identifier: CA2739273856

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 2889398
• ClinVar RCV Id: RCV003624164

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694116dup , CM000685.2:g.153694116dup	GRCh38
NC_000023.10:g.152959571dup , CM000685.1:g.152959571dup	GRCh37
NC_000023.9:g.152612765dup	NCBI36
NG_012016.1:g.10820dup
NG_012016.2:g.10820dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1255-14dup MANE Select	ENSP00000253122.5:n.1255-14dup
ENST00000253122.9:c.1255-14dup	ENSP00000253122.5:n.1255-14dup
ENST00000413787.1:c.258-88dup	ENSP00000400463.1:n.258-88dup
ENST00000430077.6:c.910-14dup	ENSP00000403041.2:n.910-14dup
ENST00000442457.1:c.309-14dup
ENST00000457723.1:c.239-21dup	ENSP00000394742.1:n.239-21dup
ENST00000485324.1:n.1386dup
NM_001142805.1:c.1225-14dup	NP_001136277.1:n.1225-14dup
NM_001142806.1:c.910-14dup	NP_001136278.1:n.910-14dup
NM_005629.3:c.1255-14dup	NP_005620.1:n.1255-14dup
NM_005629.4:c.1255-14dup MANE Select	NP_005620.1:n.1255-14dup
NM_001142805.2:c.1225-14dup	NP_001136277.1:n.1225-14dup