Canonical Allele Identifier: CA2695237924

Gene: SLC6A8

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1290dup MANE Select	ENSP00000253122.5:p.Asp431ArgfsTer?
ENST00000253122.9:c.1290dup	ENSP00000253122.5:p.Asp431ArgfsTer?
ENST00000413787.1:c.258-39dup	ENSP00000400463.1:n.258-39dup
ENST00000430077.6:c.945dup	ENSP00000403041.2:p.Asp316ArgfsTer?
ENST00000442457.1:c.344dup
ENST00000485324.1:n.1435dup
NM_001142805.1:c.1260dup	NP_001136277.1:p.Asp421ArgfsTer?
NM_001142806.1:c.945dup	NP_001136278.1:p.Asp316ArgfsTer?
NM_005629.3:c.1290dup	NP_005620.1:p.Asp431ArgfsTer?
NM_005629.4:c.1290dup MANE Select	NP_005620.1:p.Asp431ArgfsTer?
NM_001142805.2:c.1260dup	NP_001136277.1:p.Asp421ArgfsTer?