ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
creatine transporter deficiency
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693517_153693540del , CM000685.2:g.153693517_153693540del | GRCh38 |
| NC_000023.10:g.152958972_152958995del , CM000685.1:g.152958972_152958995del | GRCh37 |
| NC_000023.9:g.152612166_152612189del | NCBI36 |
| NG_012016.1:g.10221_10244del | |
| NG_012016.2:g.10221_10244del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1072_1095del MANE Select | ENSP00000253122.5:p.Val358_Phe365del | |
| ENST00000253122.9:c.1072_1095del | ENSP00000253122.5:p.Val358_Phe365del | |
| ENST00000413787.1:c.188_211del | ENSP00000400463.1:p.Arg63_Leu70del | |
| ENST00000430077.6:c.727_750del | ENSP00000403041.2:p.Val243_Phe250del | |
| ENST00000442457.1:c.126_149del | ||
| ENST00000457723.1:c.56_79del | ENSP00000394742.1:p.Arg19_Leu26del | |
| ENST00000467402.1:n.171_194del | ||
| ENST00000485324.1:n.1105_1128del | ||
| NM_001142805.1:c.1042_1065del | NP_001136277.1:p.Val348_Phe355del | |
| NM_001142806.1:c.727_750del | NP_001136278.1:p.Val243_Phe250del | |
| NM_005629.3:c.1072_1095del | NP_005620.1:p.Val358_Phe365del | |
| NM_005629.4:c.1072_1095del MANE Select | NP_005620.1:p.Val358_Phe365del | |
| NM_001142805.2:c.1042_1065del | NP_001136277.1:p.Val348_Phe355del |