Canonical Allele Identifier: CA2579729492

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693916del , CM000685.2:g.153693916del	GRCh38
NC_000023.10:g.152959371del , CM000685.1:g.152959371del	GRCh37
NC_000023.9:g.152612565del	NCBI36
NG_012016.1:g.10620del
NG_012016.2:g.10620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1153del MANE Select	ENSP00000253122.5:p.Ala385ProfsTer11
ENST00000253122.9:c.1153del	ENSP00000253122.5:p.Ala385ProfsTer11
ENST00000413787.1:c.258-288del	ENSP00000400463.1:n.258-288del
ENST00000430077.6:c.808del	ENSP00000403041.2:p.Ala270ProfsTer11
ENST00000442457.1:c.207del
ENST00000457723.1:c.137del	ENSP00000394742.1:p.Gly46AlafsTer?
ENST00000467402.1:n.252del
ENST00000485324.1:n.1186del
NM_001142805.1:c.1123del	NP_001136277.1:p.Ala375ProfsTer11
NM_001142806.1:c.808del	NP_001136278.1:p.Ala270ProfsTer11
NM_005629.3:c.1153del	NP_005620.1:p.Ala385ProfsTer11
NM_005629.4:c.1153del MANE Select	NP_005620.1:p.Ala385ProfsTer11
NM_001142805.2:c.1123del	NP_001136277.1:p.Ala375ProfsTer11