Canonical Allele Identifier: CA2579729491

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693909-GGGCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693915_153693919del , CM000685.2:g.153693915_153693919del	GRCh38
NC_000023.10:g.152959370_152959374del , CM000685.1:g.152959370_152959374del	GRCh37
NC_000023.9:g.152612564_152612568del	NCBI36
NG_012016.1:g.10619_10623del
NG_012016.2:g.10619_10623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1152_1156del MANE Select	ENSP00000253122.5:p.Ala385HisfsTer?
ENST00000253122.9:c.1152_1156del	ENSP00000253122.5:p.Ala385HisfsTer?
ENST00000413787.1:c.258-289_258-285del	ENSP00000400463.1:n.258-289_258-285del
ENST00000430077.6:c.807_811del	ENSP00000403041.2:p.Ala270HisfsTer?
ENST00000442457.1:c.206_210del
ENST00000457723.1:c.136_140del	ENSP00000394742.1:p.Gly46SerfsTer10
ENST00000467402.1:n.251_255del
ENST00000485324.1:n.1185_1189del
NM_001142805.1:c.1122_1126del	NP_001136277.1:p.Ala375HisfsTer?
NM_001142806.1:c.807_811del	NP_001136278.1:p.Ala270HisfsTer?
NM_005629.3:c.1152_1156del	NP_005620.1:p.Ala385HisfsTer?
NM_005629.4:c.1152_1156del MANE Select	NP_005620.1:p.Ala385HisfsTer?
NM_001142805.2:c.1122_1126del	NP_001136277.1:p.Ala375HisfsTer?