Linked Data
ClinVar Variation Id:
2575241
ClinVar RCV Id:
RCV003320449
dbSNP Id:
rs781156334
ExAC:
15:55783332 CACTT / C
gnomAD v2:
15-55783332-CACTT-C
gnomAD v4:
15-55491134-CACTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.55491136_55491139del , CM000677.2:g.55491136_55491139del | GRCh38 |
| NC_000015.9:g.55783334_55783337del , CM000677.1:g.55783334_55783337del | GRCh37 |
| NC_000015.8:g.53570626_53570629del | NCBI36 |
| NG_021213.1:g.22097_22100del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321149.7:c.390_393del (DNAAF4) MANE Select | ENSP00000323275.3:p.Val132Ter | |
| ENST00000348518.4:c.390_393del (DNAAF4) | ENSP00000299561.5:p.Val132Ter | |
| ENST00000448430.6:c.390_393del (DNAAF4) | ENSP00000403412.2:p.Val132Ter | |
| ENST00000457155.6:c.390_393del (DNAAF4) | ENSP00000402640.2:p.Val132Ter | |
| ENST00000519017.1:n.405_408del (DNAAF4) | ||
| ENST00000522437.1:c.*200_*203del (DNAAF4) | ENSP00000429219.1:n.*200_*203del | |
| ENST00000524160.5:c.390_393del (DNAAF4) | ENSP00000428097.1:p.Val132Ter | |
| NM_001033559.2:c.390_393del (DNAAF4) | NP_001028731.1:p.Val132Ter | |
| NM_001033560.1:c.390_393del (DNAAF4) | NP_001028732.1:p.Val132Ter | |
| NM_130810.3:c.390_393del (DNAAF4) | NP_570722.2:p.Val132Ter | |
| NR_037923.1:n.645_648del (DNAAF4-CCPG1) | ||
| NM_130810.4:c.390_393del (DNAAF4) MANE Select | NP_570722.2:p.Val132Ter | |
| NM_001033559.3:c.390_393del (DNAAF4) | NP_001028731.1:p.Val132Ter | |
| NM_001033560.2:c.390_393del (DNAAF4) | NP_001028732.1:p.Val132Ter |