ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
creatine transporter deficiency
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693387_153693420del , CM000685.2:g.153693387_153693420del | GRCh38 |
| NC_000023.10:g.152958842_152958875del , CM000685.1:g.152958842_152958875del | GRCh37 |
| NC_000023.9:g.152612036_152612069del | NCBI36 |
| NG_012016.1:g.10091_10124del | |
| NG_012016.2:g.10091_10124del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1016+21_1017-42del MANE Select | ENSP00000253122.5:n.1016+21_1017-42del | |
| ENST00000253122.9:c.1016+21_1017-42del | ENSP00000253122.5:n.1016+21_1017-42del | |
| ENST00000413787.1:c.162+21_162+54del | ENSP00000400463.1:n.162+21_162+54del | |
| ENST00000430077.6:c.671+21_672-42del | ENSP00000403041.2:n.671+21_672-42del | |
| ENST00000442457.1:c.100+21_100+54del | ||
| ENST00000467402.1:n.146-105_146-72del | ||
| ENST00000485324.1:n.1049+21_1050-42del | ||
| NM_001142805.1:c.1016+21_1016+54del | NP_001136277.1:n.1016+21_1016+54del | |
| NM_001142806.1:c.671+21_672-42del | NP_001136278.1:n.671+21_672-42del | |
| NM_005629.3:c.1016+21_1017-42del | NP_005620.1:n.1016+21_1017-42del | |
| NM_005629.4:c.1016+21_1017-42del MANE Select | NP_005620.1:n.1016+21_1017-42del | |
| NM_001142805.2:c.1016+21_1016+54del | NP_001136277.1:n.1016+21_1016+54del |