Canonical Allele Identifier: CA2573159484

Gene: SLC6A8

Linked Data

• dbSNP Id: rs2148363678

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693939_153693940insC , CM000685.2:g.153693939_153693940insC	GRCh38
NC_000023.10:g.152959394_152959395insC , CM000685.1:g.152959394_152959395insC	GRCh37
NC_000023.9:g.152612588_152612589insC	NCBI36
NG_012016.1:g.10643_10644insC
NG_012016.2:g.10643_10644insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1176_1177insC MANE Select	ENSP00000253122.5:p.Val393ArgfsTer?
ENST00000253122.9:c.1176_1177insC	ENSP00000253122.5:p.Val393ArgfsTer?
ENST00000413787.1:c.258-265_258-264insC	ENSP00000400463.1:n.258-265_258-264insC
ENST00000430077.6:c.831_832insC	ENSP00000403041.2:p.Val278ArgfsTer?
ENST00000442457.1:c.230_231insC
ENST00000457723.1:c.160_161insC	ENSP00000394742.1:p.Cys54SerfsTer4
ENST00000467402.1:n.275_276insC
ENST00000485324.1:n.1209_1210insC
NM_001142805.1:c.1146_1147insC	NP_001136277.1:p.Val383ArgfsTer?
NM_001142806.1:c.831_832insC	NP_001136278.1:p.Val278ArgfsTer?
NM_005629.3:c.1176_1177insC	NP_005620.1:p.Val393ArgfsTer?
NM_005629.4:c.1176_1177insC MANE Select	NP_005620.1:p.Val393ArgfsTer?
NM_001142805.2:c.1146_1147insC	NP_001136277.1:p.Val383ArgfsTer?