Canonical Allele Identifier: CA2582121421

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 3066450
• ClinVar RCV Id: RCV003991454
• ERepo: CA2582121421/MONDO:0010305/027

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694174_153694184del , CM000685.2:g.153694174_153694184del	GRCh38
NC_000023.10:g.152959629_152959639del , CM000685.1:g.152959629_152959639del	GRCh37
NC_000023.9:g.152612823_152612833del	NCBI36
NG_012016.1:g.10878_10888del
NG_012016.2:g.10878_10888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1299_1309del MANE Select	ENSP00000253122.5:p.Pro434LeufsTer27
ENST00000253122.9:c.1299_1309del	ENSP00000253122.5:p.Pro434LeufsTer27
ENST00000413787.1:c.258-30_258-20del	ENSP00000400463.1:n.258-30_258-20del
ENST00000430077.6:c.954_964del	ENSP00000403041.2:p.Pro319LeufsTer27
ENST00000442457.1:c.353_363del
ENST00000485324.1:n.1444_1454del
NM_001142805.1:c.1269_1279del	NP_001136277.1:p.Pro424LeufsTer27
NM_001142806.1:c.954_964del	NP_001136278.1:p.Pro319LeufsTer27
NM_005629.3:c.1299_1309del	NP_005620.1:p.Pro434LeufsTer27
NM_005629.4:c.1299_1309del MANE Select	NP_005620.1:p.Pro434LeufsTer27
NM_001142805.2:c.1269_1279del	NP_001136277.1:p.Pro424LeufsTer27