Canonical Allele Identifier: CA2580612309

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1706458
• ClinVar RCV Id: RCV002284995

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694215_153694216del , CM000685.2:g.153694215_153694216del	GRCh38
NC_000023.10:g.152959670_152959671del , CM000685.1:g.152959670_152959671del	GRCh37
NC_000023.9:g.152612864_152612865del	NCBI36
NG_012016.1:g.10919_10920del
NG_012016.2:g.10919_10920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1340_1341del MANE Select	ENSP00000253122.5:p.Val447GlyfsTer17
ENST00000253122.9:c.1340_1341del	ENSP00000253122.5:p.Val447GlyfsTer17
ENST00000413787.1:c.269_270del	ENSP00000400463.1:p.Val90GlyfsTer17
ENST00000430077.6:c.995_996del	ENSP00000403041.2:p.Val332GlyfsTer17
ENST00000442457.1:c.394_395del
ENST00000485324.1:n.1485_1486del
NM_001142805.1:c.1310_1311del	NP_001136277.1:p.Val437GlyfsTer17
NM_001142806.1:c.995_996del	NP_001136278.1:p.Val332GlyfsTer17
NM_005629.3:c.1340_1341del	NP_005620.1:p.Val447GlyfsTer17
NM_005629.4:c.1340_1341del MANE Select	NP_005620.1:p.Val447GlyfsTer17
NM_001142805.2:c.1310_1311del	NP_001136277.1:p.Val437GlyfsTer17