Canonical Allele Identifier: CA2466438147

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694050_153694051delinsAG , CM000685.2:g.153694050_153694051delinsAG	GRCh38
NC_000023.10:g.152959505_152959506delinsAG , CM000685.1:g.152959505_152959506delinsAG	GRCh37
NC_000023.9:g.152612699_152612700delinsAG	NCBI36
NG_012016.1:g.10754_10755delinsAG
NG_012016.2:g.10754_10755delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1254+33_1254+34delinsAG MANE Select	ENSP00000253122.5:n.1254+33_1254+34delinsAG
ENST00000253122.9:c.1254+33_1254+34delinsAG	ENSP00000253122.5:n.1254+33_1254+34delinsAG
ENST00000413787.1:c.258-154_258-153delinsAG	ENSP00000400463.1:n.258-154_258-153delinsAG
ENST00000430077.6:c.909+33_909+34delinsAG	ENSP00000403041.2:n.909+33_909+34delinsAG
ENST00000442457.1:c.308+33_308+34delinsAG
ENST00000457723.1:c.238+33_238+34delinsAG	ENSP00000394742.1:n.238+33_238+34delinsAG
ENST00000485324.1:n.1320_1321delinsAG
NM_001142805.1:c.1224+33_1224+34delinsAG	NP_001136277.1:n.1224+33_1224+34delinsAG
NM_001142806.1:c.909+33_909+34delinsAG	NP_001136278.1:n.909+33_909+34delinsAG
NM_005629.3:c.1254+33_1254+34delinsAG	NP_005620.1:n.1254+33_1254+34delinsAG
NM_005629.4:c.1254+33_1254+34delinsAG MANE Select	NP_005620.1:n.1254+33_1254+34delinsAG
NM_001142805.2:c.1224+33_1224+34delinsAG	NP_001136277.1:n.1224+33_1224+34delinsAG