Canonical Allele Identifier: CA2466438146

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694049_153694050delinsGA , CM000685.2:g.153694049_153694050delinsGA	GRCh38
NC_000023.10:g.152959504_152959505delinsGA , CM000685.1:g.152959504_152959505delinsGA	GRCh37
NC_000023.9:g.152612698_152612699delinsGA	NCBI36
NG_012016.1:g.10753_10754delinsGA
NG_012016.2:g.10753_10754delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1254+32_1254+33delinsGA MANE Select	ENSP00000253122.5:n.1254+32_1254+33delinsGA
ENST00000253122.9:c.1254+32_1254+33delinsGA	ENSP00000253122.5:n.1254+32_1254+33delinsGA
ENST00000413787.1:c.258-155_258-154delinsGA	ENSP00000400463.1:n.258-155_258-154delinsGA
ENST00000430077.6:c.909+32_909+33delinsGA	ENSP00000403041.2:n.909+32_909+33delinsGA
ENST00000442457.1:c.308+32_308+33delinsGA
ENST00000457723.1:c.238+32_238+33delinsGA	ENSP00000394742.1:n.238+32_238+33delinsGA
ENST00000485324.1:n.1319_1320delinsGA
NM_001142805.1:c.1224+32_1224+33delinsGA	NP_001136277.1:n.1224+32_1224+33delinsGA
NM_001142806.1:c.909+32_909+33delinsGA	NP_001136278.1:n.909+32_909+33delinsGA
NM_005629.3:c.1254+32_1254+33delinsGA	NP_005620.1:n.1254+32_1254+33delinsGA
NM_005629.4:c.1254+32_1254+33delinsGA MANE Select	NP_005620.1:n.1254+32_1254+33delinsGA
NM_001142805.2:c.1224+32_1224+33delinsGA	NP_001136277.1:n.1224+32_1224+33delinsGA