Canonical Allele Identifier: CA2580101715

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1993134
• ClinVar RCV Id: RCV002801172

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694281_153694305del , CM000685.2:g.153694281_153694305del	GRCh38
NC_000023.10:g.152959736_152959760del , CM000685.1:g.152959736_152959760del	GRCh37
NC_000023.9:g.152612930_152612954del	NCBI36
NG_012016.1:g.10985_11009del
NG_012016.2:g.10985_11009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1392+14_1393-39del MANE Select	ENSP00000253122.5:n.1392+14_1393-39del
ENST00000253122.9:c.1392+14_1393-39del	ENSP00000253122.5:n.1392+14_1393-39del
ENST00000413787.1:c.321+14_322-39del	ENSP00000400463.1:n.321+14_322-39del
ENST00000430077.6:c.1047+14_1048-39del	ENSP00000403041.2:n.1047+14_1048-39del
ENST00000442457.1:c.446+14_447-39del
ENST00000485324.1:n.1551_1575del
NM_001142805.1:c.1362+14_1363-39del	NP_001136277.1:n.1362+14_1363-39del
NM_001142806.1:c.1047+14_1048-39del	NP_001136278.1:n.1047+14_1048-39del
NM_005629.3:c.1392+14_1393-39del	NP_005620.1:n.1392+14_1393-39del
NM_005629.4:c.1392+14_1393-39del MANE Select	NP_005620.1:n.1392+14_1393-39del
NM_001142805.2:c.1362+14_1363-39del	NP_001136277.1:n.1362+14_1363-39del