Canonical Allele Identifier: CA1139667847

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 987004
• ClinVar RCV Id: RCV001268200
• dbSNP Id: rs2091473920

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694135_153694156del , CM000685.2:g.153694135_153694156del	GRCh38
NC_000023.10:g.152959590_152959611del , CM000685.1:g.152959590_152959611del	GRCh37
NC_000023.9:g.152612784_152612805del	NCBI36
NG_012016.1:g.10839_10860del
NG_012016.2:g.10839_10860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1260_1281del MANE Select	ENSP00000253122.5:p.Gly421AlafsTer?
ENST00000253122.9:c.1260_1281del	ENSP00000253122.5:p.Gly421AlafsTer?
ENST00000413787.1:c.258-69_258-48del	ENSP00000400463.1:n.258-69_258-48del
ENST00000430077.6:c.915_936del	ENSP00000403041.2:p.Gly306AlafsTer?
ENST00000442457.1:c.314_335del
ENST00000457723.1:c.239-2_258del
ENST00000485324.1:n.1405_1426del
NM_001142805.1:c.1230_1251del	NP_001136277.1:p.Gly411AlafsTer?
NM_001142806.1:c.915_936del	NP_001136278.1:p.Gly306AlafsTer?
NM_005629.3:c.1260_1281del	NP_005620.1:p.Gly421AlafsTer?
NM_005629.4:c.1260_1281del MANE Select	NP_005620.1:p.Gly421AlafsTer?
NM_001142805.2:c.1230_1251del	NP_001136277.1:p.Gly411AlafsTer?