Canonical Allele Identifier: CA2466438114

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693978_153693981delinsGTTC , CM000685.2:g.153693978_153693981delinsGTTC	GRCh38
NC_000023.10:g.152959433_152959436delinsGTTC , CM000685.1:g.152959433_152959436delinsGTTC	GRCh37
NC_000023.9:g.152612627_152612630delinsGTTC	NCBI36
NG_012016.1:g.10682_10685delinsGTTC
NG_012016.2:g.10682_10685delinsGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1215_1218delinsGTTC MANE Select	ENSP00000253122.5:p.Leu405=
ENST00000253122.9:c.1215_1218delinsGTTC	ENSP00000253122.5:p.Leu405=
ENST00000413787.1:c.258-226_258-223delinsGTTC	ENSP00000400463.1:n.258-226_258-223delinsGTTC
ENST00000430077.6:c.870_873delinsGTTC	ENSP00000403041.2:p.Leu290=
ENST00000442457.1:c.269_272delinsGTTC
ENST00000457723.1:c.199_202delinsGTTC	ENSP00000394742.1:p.Val67=
ENST00000485324.1:n.1248_1251delinsGTTC
NM_001142805.1:c.1185_1188delinsGTTC	NP_001136277.1:p.Leu395=
NM_001142806.1:c.870_873delinsGTTC	NP_001136278.1:p.Leu290=
NM_005629.3:c.1215_1218delinsGTTC	NP_005620.1:p.Leu405=
NM_005629.4:c.1215_1218delinsGTTC MANE Select	NP_005620.1:p.Leu405=
NM_001142805.2:c.1185_1188delinsGTTC	NP_001136277.1:p.Leu395=