Linked Data
ClinVar Variation Id:
1677880
dbSNP Id:
rs752068609
ExAC:
17:8192117 CGA / C
gnomAD v2:
17-8192117-CGA-C
gnomAD v3:
17-8288799-CGA-C
gnomAD v4:
17-8288799-CGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8288804_8288805del , CM000679.2:g.8288804_8288805del | GRCh38 |
| NC_000017.10:g.8192122_8192123del , CM000679.1:g.8192122_8192123del | GRCh37 |
| NC_000017.9:g.8132847_8132848del | NCBI36 |
| NG_028189.1:g.5154_5155del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226105.11:c.16_17del (RANGRF) MANE Select | ENSP00000226105.6:p.Asp6LeufsTer18 | |
| ENST00000226105.10:c.16_17del (RANGRF) | ENSP00000226105.6:p.Asp6LeufsTer18 | |
| ENST00000380067.6:c.*815_*816del (SLC25A35) | ENSP00000369407.2:n.*815_*816del | |
| ENST00000407006.8:c.16_17del (RANGRF) | ENSP00000383940.4:p.Asp6LeufsTer18 | |
| ENST00000439238.3:c.16_17del (RANGRF) | ENSP00000413190.3:p.Asp6LeufsTer18 | |
| ENST00000578849.1:n.106_107del (RANGRF) | ||
| ENST00000579192.5:c.*43-369_*43-368del (SLC25A35) | ENSP00000462395.1:n.*43-369_*43-368del | |
| ENST00000580434.5:c.16_17del (RANGRF) | ENSP00000462310.1:p.Asp6LeufsTer18 | |
| ENST00000581320.1:n.90+145_90+146del (SLC25A35) | ||
| NM_001177801.1:c.16_17del (RANGRF) | NP_001171272.1:p.Asp6LeufsTer18 | |
| NM_001177802.1:c.16_17del (RANGRF) | NP_001171273.1:p.Asp6LeufsTer18 | |
| NM_016492.4:c.16_17del (RANGRF) | NP_057576.2:p.Asp6LeufsTer18 | |
| NM_201520.1:c.*815_*816del (SLC25A35) | NP_958928.1:n.*815_*816del | |
| XM_005256618.3:c.16_17del (RANGRF) | XP_005256675.1:p.Asp6LeufsTer18 | |
| NM_001320871.1:c.*43-369_*43-368del (SLC25A35) | NP_001307800.1:n.*43-369_*43-368del | |
| NM_001330127.1:c.16_17del (RANGRF) | NP_001317056.1:p.Asp6LeufsTer18 | |
| NM_201520.2:c.*815_*816del (SLC25A35) | NP_958928.1:n.*815_*816del | |
| NM_016492.5:c.16_17del (RANGRF) MANE Select | NP_057576.2:p.Asp6LeufsTer18 | |
| NM_001177801.2:c.16_17del (RANGRF) | NP_001171272.1:p.Asp6LeufsTer18 | |
| NM_001177802.2:c.16_17del (RANGRF) | NP_001171273.1:p.Asp6LeufsTer18 | |
| NM_001320871.2:c.*43-369_*43-368del (SLC25A35) | NP_001307800.1:n.*43-369_*43-368del | |
| NM_001330127.2:c.16_17del (RANGRF) | NP_001317056.1:p.Asp6LeufsTer18 | |
| NM_201520.3:c.*815_*816del (SLC25A35) | NP_958928.1:n.*815_*816del | |
| NR_135483.2:n.2360_2361del (SLC25A35) |