Canonical Allele Identifier: CA2579729522

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694165_153694166del , CM000685.2:g.153694165_153694166del	GRCh38
NC_000023.10:g.152959620_152959621del , CM000685.1:g.152959620_152959621del	GRCh37
NC_000023.9:g.152612814_152612815del	NCBI36
NG_012016.1:g.10869_10870del
NG_012016.2:g.10869_10870del

Transcript Alleles

HGVS	Amino-acid change
ENST00000253122.10:c.1290_1291del MANE Select	ENSP00000253122.5:p.Asp431ProfsTer?
ENST00000253122.9:c.1290_1291del	ENSP00000253122.5:p.Asp431ProfsTer?
ENST00000413787.1:c.258-39_258-38del	ENSP00000400463.1:n.258-39_258-38del
ENST00000430077.6:c.945_946del	ENSP00000403041.2:p.Asp316ProfsTer?
ENST00000442457.1:c.344_345del
ENST00000485324.1:n.1435_1436del
NM_001142805.1:c.1260_1261del	NP_001136277.1:p.Asp421ProfsTer?
NM_001142806.1:c.945_946del	NP_001136278.1:p.Asp316ProfsTer?
NM_005629.3:c.1290_1291del	NP_005620.1:p.Asp431ProfsTer?
NM_005629.4:c.1290_1291del MANE Select	NP_005620.1:p.Asp431ProfsTer?
NM_001142805.2:c.1260_1261del	NP_001136277.1:p.Asp421ProfsTer?