ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
creatine transporter deficiency
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153691556_153691559del , CM000685.2:g.153691556_153691559del | GRCh38 |
| NC_000023.10:g.152957011_152957014del , CM000685.1:g.152957011_152957014del | GRCh37 |
| NC_000023.9:g.152610205_152610208del | NCBI36 |
| NG_012016.1:g.8260_8263del | |
| NG_012016.2:g.8260_8263del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.644+3_644+6del | ||
| ENST00000675713.1:n.398+3_398+6del | ||
| ENST00000253122.9:c.644+3_644+6del | ||
| ENST00000429147.1:c.93+3_93+6del | ||
| ENST00000430077.6:c.299+3_299+6del | ||
| ENST00000466243.1:n.436+3_436+6del | ||
| ENST00000467402.1:n.145+49_145+52del | ||
| NM_001142805.1:c.644+3_644+6del | ||
| NM_001142806.1:c.299+3_299+6del | ||
| NM_005629.3:c.644+3_644+6del | ||
| NM_005629.4:c.644+3_644+6del | ||
| NM_001142805.2:c.644+3_644+6del |