Linked Data
dbSNP Id:
rs1567033049
gnomAD v2:
15-55783385-GCTT-G
gnomAD v4:
15-55491187-GCTT-G
MyVariant Identifiers:
chr15:g.55783386_55783388del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.55491191_55491193del , CM000677.2:g.55491191_55491193del | GRCh38 |
| NC_000015.9:g.55783389_55783391del , CM000677.1:g.55783389_55783391del | GRCh37 |
| NC_000015.8:g.53570681_53570683del | NCBI36 |
| NG_021213.1:g.22045_22047del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321149.7:c.338_340del (DNAAF4) MANE Select | ENSP00000323275.3:p.Glu113del | |
| ENST00000348518.4:c.338_340del (DNAAF4) | ENSP00000299561.5:p.Glu113del | |
| ENST00000448430.6:c.338_340del (DNAAF4) | ENSP00000403412.2:p.Glu113del | |
| ENST00000457155.6:c.338_340del (DNAAF4) | ENSP00000402640.2:p.Glu113del | |
| ENST00000519017.1:n.353_355del (DNAAF4) | ||
| ENST00000522437.1:c.*148_*150del (DNAAF4) | ENSP00000429219.1:n.*148_*150del | |
| ENST00000524160.5:c.338_340del (DNAAF4) | ENSP00000428097.1:p.Glu113del | |
| NM_001033559.2:c.338_340del (DNAAF4) | NP_001028731.1:p.Glu113del | |
| NM_001033560.1:c.338_340del (DNAAF4) | NP_001028732.1:p.Glu113del | |
| NM_130810.3:c.338_340del (DNAAF4) | NP_570722.2:p.Glu113del | |
| NR_037923.1:n.593_595del (DNAAF4-CCPG1) | ||
| NM_130810.4:c.338_340del (DNAAF4) MANE Select | NP_570722.2:p.Glu113del | |
| NM_001033559.3:c.338_340del (DNAAF4) | NP_001028731.1:p.Glu113del | |
| NM_001033560.2:c.338_340del (DNAAF4) | NP_001028732.1:p.Glu113del |