Canonical Allele Identifier: CA2579729499

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694015del , CM000685.2:g.153694015del	GRCh38
NC_000023.10:g.152959470del , CM000685.1:g.152959470del	GRCh37
NC_000023.9:g.152612664del	NCBI36
NG_012016.1:g.10719del
NG_012016.2:g.10719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1252del MANE Select	ENSP00000253122.5:p.Gln418SerfsTer3
ENST00000253122.9:c.1252del	ENSP00000253122.5:p.Gln418SerfsTer3
ENST00000413787.1:c.258-189del	ENSP00000400463.1:n.258-189del
ENST00000430077.6:c.907del	ENSP00000403041.2:p.Gln303SerfsTer3
ENST00000442457.1:c.306del
ENST00000457723.1:c.236del	ENSP00000394742.1:p.Pro79GlnfsTer?
ENST00000485324.1:n.1285del
NM_001142805.1:c.1222del	NP_001136277.1:p.Gln408SerfsTer3
NM_001142806.1:c.907del	NP_001136278.1:p.Gln303SerfsTer3
NM_005629.3:c.1252del	NP_005620.1:p.Gln418SerfsTer3
NM_005629.4:c.1252del MANE Select	NP_005620.1:p.Gln418SerfsTer3
NM_001142805.2:c.1222del	NP_001136277.1:p.Gln408SerfsTer3