Canonical Allele Identifier: CA2466438203

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694154_153694174delinsACCGGCCTCCTCGACCTCCTC , CM000685.2:g.153694154_153694174delinsACCGGCCTCCTCGACCTCCTC	GRCh38
NC_000023.10:g.152959609_152959629delinsACCGGCCTCCTCGACCTCCTC , CM000685.1:g.152959609_152959629delinsACCGGCCTCCTCGACCTCCTC	GRCh37
NC_000023.9:g.152612803_152612823delinsACCGGCCTCCTCGACCTCCTC	NCBI36
NG_012016.1:g.10858_10878delinsACCGGCCTCCTCGACCTCCTC
NG_012016.2:g.10858_10878delinsACCGGCCTCCTCGACCTCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1279_1299delinsACCGGCCTCCTCGACCTCCTC MANE Select	ENSP00000253122.5:p.Thr427=
ENST00000253122.9:c.1279_1299delinsACCGGCCTCCTCGACCTCCTC	ENSP00000253122.5:p.Thr427=
ENST00000413787.1:c.258-50_258-30delinsACCGGCCTCCTCGACCTCCTC	ENSP00000400463.1:n.258-50_258-30delinsACCGGCCTCCTCGACCTCCTC
ENST00000430077.6:c.934_954delinsACCGGCCTCCTCGACCTCCTC	ENSP00000403041.2:p.Thr312=
ENST00000442457.1:c.333_353delinsACCGGCCTCCTCGACCTCCTC
ENST00000485324.1:n.1424_1444delinsACCGGCCTCCTCGACCTCCTC
NM_001142805.1:c.1249_1269delinsACCGGCCTCCTCGACCTCCTC	NP_001136277.1:p.Thr417=
NM_001142806.1:c.934_954delinsACCGGCCTCCTCGACCTCCTC	NP_001136278.1:p.Thr312=
NM_005629.3:c.1279_1299delinsACCGGCCTCCTCGACCTCCTC	NP_005620.1:p.Thr427=
NM_005629.4:c.1279_1299delinsACCGGCCTCCTCGACCTCCTC MANE Select	NP_005620.1:p.Thr427=
NM_001142805.2:c.1249_1269delinsACCGGCCTCCTCGACCTCCTC	NP_001136277.1:p.Thr417=