Canonical Allele Identifier: CA2579729493

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693920del , CM000685.2:g.153693920del	GRCh38
NC_000023.10:g.152959375del , CM000685.1:g.152959375del	GRCh37
NC_000023.9:g.152612569del	NCBI36
NG_012016.1:g.10624del
NG_012016.2:g.10624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1157del MANE Select	ENSP00000253122.5:p.Phe386SerfsTer10
ENST00000253122.9:c.1157del	ENSP00000253122.5:p.Phe386SerfsTer10
ENST00000413787.1:c.258-284del	ENSP00000400463.1:n.258-284del
ENST00000430077.6:c.812del	ENSP00000403041.2:p.Phe271SerfsTer10
ENST00000442457.1:c.211del
ENST00000457723.1:c.141del	ENSP00000394742.1:p.His48IlefsTer?
ENST00000467402.1:n.256del
ENST00000485324.1:n.1190del
NM_001142805.1:c.1127del	NP_001136277.1:p.Phe376SerfsTer10
NM_001142806.1:c.812del	NP_001136278.1:p.Phe271SerfsTer10
NM_005629.3:c.1157del	NP_005620.1:p.Phe386SerfsTer10
NM_005629.4:c.1157del MANE Select	NP_005620.1:p.Phe386SerfsTer10
NM_001142805.2:c.1127del	NP_001136277.1:p.Phe376SerfsTer10