Canonical Allele Identifier: CA1139667846

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 974831
• ClinVar RCV Id: RCV001251109
• dbSNP Id: rs2091473708

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694095_153694147del , CM000685.2:g.153694095_153694147del	GRCh38
NC_000023.10:g.152959550_152959602del , CM000685.1:g.152959550_152959602del	GRCh37
NC_000023.9:g.152612744_152612796del	NCBI36
NG_012016.1:g.10799_10851del
NG_012016.2:g.10799_10851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1255-35_1272del
ENST00000253122.9:c.1255-35_1272del
ENST00000413787.1:c.258-109_258-57del	ENSP00000400463.1:n.258-109_258-57del
ENST00000430077.6:c.910-35_927del
ENST00000442457.1:c.309-35_326del
ENST00000457723.1:c.239-42_249del
ENST00000485324.1:n.1365_1417del
NM_001142805.1:c.1225-35_1242del
NM_001142806.1:c.910-35_927del
NM_005629.3:c.1255-35_1272del
NM_005629.4:c.1255-35_1272del
NM_001142805.2:c.1225-35_1242del