Linked Data
dbSNP Id:
rs756300905
ExAC:
17:8192276 AC / A
gnomAD v2:
17-8192276-AC-A
gnomAD v4:
17-8288958-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8288960del , CM000679.2:g.8288960del | GRCh38 |
| NC_000017.10:g.8192278del , CM000679.1:g.8192278del | GRCh37 |
| NC_000017.9:g.8133003del | NCBI36 |
| NG_028189.1:g.5310del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226105.11:c.82del (RANGRF) MANE Select | ENSP00000226105.6:p.Leu28SerfsTer15 | |
| ENST00000226105.10:c.82del (RANGRF) | ENSP00000226105.6:p.Leu28SerfsTer15 | |
| ENST00000380067.6:c.*657del (SLC25A35) | ENSP00000369407.2:n.*657del | |
| ENST00000407006.8:c.82del (RANGRF) | ENSP00000383940.4:p.Leu28SerfsTer15 | |
| ENST00000439238.3:c.82del (RANGRF) | ENSP00000413190.3:p.Leu28SerfsTer15 | |
| ENST00000578849.1:n.172del (RANGRF) | ||
| ENST00000579192.5:c.*43-527del (SLC25A35) | ENSP00000462395.1:n.*43-527del | |
| ENST00000580340.5:c.*524del (SLC25A35) | ENSP00000464071.1:n.*524del | |
| ENST00000580434.5:c.82del (RANGRF) | ENSP00000462310.1:p.Leu28SerfsTer15 | |
| ENST00000580777.1:n.76del (RANGRF) | ||
| ENST00000581320.1:n.77del (SLC25A35) | ||
| ENST00000585311.5:c.*569del (SLC25A35) | ENSP00000464191.1:n.*569del | |
| NM_001177801.1:c.82del (RANGRF) | NP_001171272.1:p.Leu28SerfsTer15 | |
| NM_001177802.1:c.82del (RANGRF) | NP_001171273.1:p.Leu28SerfsTer15 | |
| NM_016492.4:c.82del (RANGRF) | NP_057576.2:p.Leu28SerfsTer15 | |
| NM_201520.1:c.*657del (SLC25A35) | NP_958928.1:n.*657del | |
| XM_005256618.3:c.82del (RANGRF) | XP_005256675.1:p.Leu28SerfsTer15 | |
| NM_001320871.1:c.*43-527del (SLC25A35) | NP_001307800.1:n.*43-527del | |
| NM_001320872.1:c.*524del (SLC25A35) | NP_001307801.1:n.*524del | |
| NM_001330127.1:c.82del (RANGRF) | NP_001317056.1:p.Leu28SerfsTer15 | |
| NM_201520.2:c.*657del (SLC25A35) | NP_958928.1:n.*657del | |
| NR_135484.1:n.1981del (SLC25A35) | ||
| NM_016492.5:c.82del (RANGRF) MANE Select | NP_057576.2:p.Leu28SerfsTer15 | |
| NM_001177801.2:c.82del (RANGRF) | NP_001171272.1:p.Leu28SerfsTer15 | |
| NM_001177802.2:c.82del (RANGRF) | NP_001171273.1:p.Leu28SerfsTer15 | |
| NM_001320871.2:c.*43-527del (SLC25A35) | NP_001307800.1:n.*43-527del | |
| NM_001330127.2:c.82del (RANGRF) | NP_001317056.1:p.Leu28SerfsTer15 | |
| NM_201520.3:c.*657del (SLC25A35) | NP_958928.1:n.*657del | |
| NR_135483.2:n.2202del (SLC25A35) | ||
| NM_001320872.2:c.*524del (SLC25A35) | NP_001307801.1:n.*524del | |
| NR_135484.2:n.2038del (SLC25A35) |