Canonical Allele Identifier: CA2579729490
Gene: SLC6A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693909_153693913del , CM000685.2:g.153693909_153693913del GRCh38
NC_000023.10:g.152959364_152959368del , CM000685.1:g.152959364_152959368del GRCh37
NC_000023.9:g.152612558_152612562del NCBI36
NG_012016.1:g.10613_10617del
NG_012016.2:g.10613_10617del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1146_1150del
ENST00000253122.9:c.1146_1150del
ENST00000413787.1:c.258-295_258-291del ENSP00000400463.1:n.258-295_258-291del
ENST00000430077.6:c.801_805del
ENST00000442457.1:c.200_204del
ENST00000457723.1:c.130_134del
ENST00000467402.1:n.245_249del
ENST00000485324.1:n.1179_1183del
NM_001142805.1:c.1116_1120del
NM_001142806.1:c.801_805del
NM_005629.3:c.1146_1150del
NM_005629.4:c.1146_1150del
NM_001142805.2:c.1116_1120del