Canonical Allele Identifier: CA2579729526

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694234_153694235del , CM000685.2:g.153694234_153694235del	GRCh38
NC_000023.10:g.152959689_152959690del , CM000685.1:g.152959689_152959690del	GRCh37
NC_000023.9:g.152612883_152612884del	NCBI36
NG_012016.1:g.10938_10939del
NG_012016.2:g.10938_10939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1359_1360del MANE Select	ENSP00000253122.5:p.Cys454LeufsTer10
ENST00000253122.9:c.1359_1360del	ENSP00000253122.5:p.Cys454LeufsTer10
ENST00000413787.1:c.288_289del	ENSP00000400463.1:p.Cys97LeufsTer10
ENST00000430077.6:c.1014_1015del	ENSP00000403041.2:p.Cys339LeufsTer10
ENST00000442457.1:c.413_414del
ENST00000485324.1:n.1504_1505del
NM_001142805.1:c.1329_1330del	NP_001136277.1:p.Cys444LeufsTer10
NM_001142806.1:c.1014_1015del	NP_001136278.1:p.Cys339LeufsTer10
NM_005629.3:c.1359_1360del	NP_005620.1:p.Cys454LeufsTer10
NM_005629.4:c.1359_1360del MANE Select	NP_005620.1:p.Cys454LeufsTer10
NM_001142805.2:c.1329_1330del	NP_001136277.1:p.Cys444LeufsTer10