Canonical Allele Identifier: CA2466438238

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694263_153694266delinsCTGA , CM000685.2:g.153694263_153694266delinsCTGA	GRCh38
NC_000023.10:g.152959718_152959721delinsCTGA , CM000685.1:g.152959718_152959721delinsCTGA	GRCh37
NC_000023.9:g.152612912_152612915delinsCTGA	NCBI36
NG_012016.1:g.10967_10970delinsCTGA
NG_012016.2:g.10967_10970delinsCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1388_1391delinsCTGA MANE Select	ENSP00000253122.5:p.Thr463=
ENST00000253122.9:c.1388_1391delinsCTGA	ENSP00000253122.5:p.Thr463=
ENST00000413787.1:c.317_320delinsCTGA	ENSP00000400463.1:p.Thr106=
ENST00000430077.6:c.1043_1046delinsCTGA	ENSP00000403041.2:p.Thr348=
ENST00000442457.1:c.442_445delinsCTGA
ENST00000485324.1:n.1533_1536delinsCTGA
NM_001142805.1:c.1358_1361delinsCTGA	NP_001136277.1:p.Thr453=
NM_001142806.1:c.1043_1046delinsCTGA	NP_001136278.1:p.Thr348=
NM_005629.3:c.1388_1391delinsCTGA	NP_005620.1:p.Thr463=
NM_005629.4:c.1388_1391delinsCTGA MANE Select	NP_005620.1:p.Thr463=
NM_001142805.2:c.1358_1361delinsCTGA	NP_001136277.1:p.Thr453=