Canonical Allele Identifier: CA2579729497

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693970del , CM000685.2:g.153693970del	GRCh38
NC_000023.10:g.152959425del , CM000685.1:g.152959425del	GRCh37
NC_000023.9:g.152612619del	NCBI36
NG_012016.1:g.10674del
NG_012016.2:g.10674del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1207del MANE Select	ENSP00000253122.5:p.Ala403LeufsTer18
ENST00000253122.9:c.1207del	ENSP00000253122.5:p.Ala403LeufsTer18
ENST00000413787.1:c.258-234del	ENSP00000400463.1:n.258-234del
ENST00000430077.6:c.862del	ENSP00000403041.2:p.Ala288LeufsTer18
ENST00000442457.1:c.261del
ENST00000457723.1:c.191del	ENSP00000394742.1:p.Gly64AlafsTer?
ENST00000467402.1:n.306del
ENST00000485324.1:n.1240del
NM_001142805.1:c.1177del	NP_001136277.1:p.Ala393LeufsTer18
NM_001142806.1:c.862del	NP_001136278.1:p.Ala288LeufsTer18
NM_005629.3:c.1207del	NP_005620.1:p.Ala403LeufsTer18
NM_005629.4:c.1207del MANE Select	NP_005620.1:p.Ala403LeufsTer18
NM_001142805.2:c.1177del	NP_001136277.1:p.Ala393LeufsTer18