Canonical Allele Identifier: CA2697544807

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 2706794
• ClinVar RCV Id: RCV003512956

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694164_153694165del , CM000685.2:g.153694164_153694165del	GRCh38
NC_000023.10:g.152959619_152959620del , CM000685.1:g.152959619_152959620del	GRCh37
NC_000023.9:g.152612813_152612814del	NCBI36
NG_012016.1:g.10868_10869del
NG_012016.2:g.10868_10869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1289_1290del MANE Select	ENSP00000253122.5:p.Leu430ArgfsTer?
ENST00000253122.9:c.1289_1290del	ENSP00000253122.5:p.Leu430ArgfsTer?
ENST00000413787.1:c.258-40_258-39del	ENSP00000400463.1:n.258-40_258-39del
ENST00000430077.6:c.944_945del	ENSP00000403041.2:p.Leu315ArgfsTer?
ENST00000442457.1:c.343_344del
ENST00000485324.1:n.1434_1435del
NM_001142805.1:c.1259_1260del	NP_001136277.1:p.Leu420ArgfsTer?
NM_001142806.1:c.944_945del	NP_001136278.1:p.Leu315ArgfsTer?
NM_005629.3:c.1289_1290del	NP_005620.1:p.Leu430ArgfsTer?
NM_005629.4:c.1289_1290del MANE Select	NP_005620.1:p.Leu430ArgfsTer?
NM_001142805.2:c.1259_1260del	NP_001136277.1:p.Leu420ArgfsTer?