Canonical Allele Identifier: CA2579729524

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694190_153694192del , CM000685.2:g.153694190_153694192del	GRCh38
NC_000023.10:g.152959645_152959647del , CM000685.1:g.152959645_152959647del	GRCh37
NC_000023.9:g.152612839_152612841del	NCBI36
NG_012016.1:g.10894_10896del
NG_012016.2:g.10894_10896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1315_1317del MANE Select	ENSP00000253122.5:p.Phe439del
ENST00000253122.9:c.1315_1317del	ENSP00000253122.5:p.Phe439del
ENST00000413787.1:c.258-14_258-12del	ENSP00000400463.1:n.258-14_258-12del
ENST00000430077.6:c.970_972del	ENSP00000403041.2:p.Phe324del
ENST00000442457.1:c.369_371del
ENST00000485324.1:n.1460_1462del
NM_001142805.1:c.1285_1287del	NP_001136277.1:p.Phe429del
NM_001142806.1:c.970_972del	NP_001136278.1:p.Phe324del
NM_005629.3:c.1315_1317del	NP_005620.1:p.Phe439del
NM_005629.4:c.1315_1317del MANE Select	NP_005620.1:p.Phe439del
NM_001142805.2:c.1285_1287del	NP_001136277.1:p.Phe429del