Canonical Allele Identifier: CA2499226441

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694588del , CM000685.2:g.153694588del	GRCh38
NC_000023.10:g.152960043del , CM000685.1:g.152960043del	GRCh37
NC_000023.9:g.152613237del	NCBI36
NG_012016.1:g.11292del
NG_012016.2:g.11292del

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.1551del MANE Select	NP_005620.1:p.Trp518GlyfsTer2
ENST00000253122.10:c.1551del MANE Select	ENSP00000253122.5:p.Trp518GlyfsTer2
NM_001142805.1:c.1521del	NP_001136277.1:p.Trp508GlyfsTer2
NM_001142805.2:c.1521del	NP_001136277.1:p.Trp508GlyfsTer2
NM_001142806.1:c.1206del	NP_001136278.1:p.Trp403GlyfsTer2
NM_005629.3:c.1551del	NP_005620.1:p.Trp518GlyfsTer2
ENST00000253122.9:c.1551del	ENSP00000253122.5:p.Trp518GlyfsTer2
ENST00000430077.6:c.1206del	ENSP00000403041.2:p.Trp403GlyfsTer2
ENST00000485324.1:n.1858del