COSMIC:
COSN8871886 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17764397 (NFE)
Genomes Max Group AF
0.16682424 (NFE)
Exomes Max Group AF
0.17824724 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107567250A>G , CM000669.2:g.107567250A>G | GRCh38 |
| NC_000007.13:g.107207695A>G , CM000669.1:g.107207695A>G | GRCh37 |
| NC_000007.12:g.106994931A>G | NCBI36 |
| NG_028095.1:g.2265T>C | |
| NG_028095.2:g.2265T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265720.8:c.116+64A>G (DUS4L) MANE Select | ENSP00000265720.3:n.116+64A>G | |
| ENST00000673665.1:c.116+64A>G (DUS4L-BCAP29) | ENSP00000501082.1:n.116+64A>G | |
| ENST00000673689.1:c.-130+64A>G (DUS4L-BCAP29) | ENSP00000501243.1:n.-130+64A>G | |
| ENST00000673709.1:c.116+64A>G (DUS4L-BCAP29) | ENSP00000501046.1:n.116+64A>G | |
| ENST00000673720.1:c.116+64A>G (DUS4L-BCAP29) | ENSP00000501003.1:n.116+64A>G | |
| ENST00000673757.1:c.116+64A>G (DUS4L-BCAP29) | ENSP00000501026.1:n.116+64A>G | |
| ENST00000673780.1:c.116+64A>G (DUS4L-BCAP29) | ENSP00000501094.1:n.116+64A>G | |
| ENST00000673784.1:c.116+64A>G (DUS4L-BCAP29) | ENSP00000501306.1:n.116+64A>G | |
| ENST00000673970.1:c.116+64A>G (DUS4L-BCAP29) | ENSP00000501195.1:n.116+64A>G | |
| ENST00000673992.1:c.116+64A>G (DUS4L-BCAP29) | ENSP00000501193.1:n.116+64A>G | |
| ENST00000674049.1:c.116+64A>G (DUS4L-BCAP29) | ENSP00000501280.1:n.116+64A>G | |
| ENST00000674062.1:c.116+64A>G (DUS4L-BCAP29) | ENSP00000501049.1:n.116+64A>G | |
| ENST00000265720.7:c.116+64A>G (DUS4L) | ENSP00000265720.3:n.116+64A>G | |
| ENST00000422290.5:c.116+64A>G (DUS4L) | ENSP00000402887.1:n.116+64A>G | |
| ENST00000431839.5:c.116+64A>G (DUS4L) | ENSP00000388904.1:n.116+64A>G | |
| ENST00000436411.5:c.116+64A>G (DUS4L) | ENSP00000412739.1:n.116+64A>G | |
| ENST00000443233.5:c.116+64A>G (DUS4L) | ENSP00000388061.1:n.116+64A>G | |
| ENST00000458611.1:c.116+64A>G (DUS4L) | ENSP00000399375.1:n.116+64A>G | |
| NM_001270419.1:c.116+64A>G (DUS4L) | NP_001257348.1:n.116+64A>G | |
| NM_181581.2:c.116+64A>G (DUS4L) | NP_853559.1:n.116+64A>G | |
| NR_073002.1:n.517+64A>G (DUS4L) | ||
| NR_073003.1:n.479+64A>G (DUS4L) | ||
| NR_073004.1:n.479+64A>G (DUS4L) | ||
| NR_073005.1:n.329+64A>G (DUS4L) | ||
| XM_005250125.3:c.116+64A>G (DUS4L) | XP_005250182.1:n.116+64A>G | |
| XM_006715844.1:c.116+64A>G (DUS4L) | XP_006715907.1:n.116+64A>G | |
| XM_006715845.2:c.116+64A>G (DUS4L) | XP_006715908.1:n.116+64A>G | |
| XM_011515766.1:c.116+64A>G (DUS4L) | XP_011514068.1:n.116+64A>G | |
| XM_011515767.1:c.116+64A>G (DUS4L) | XP_011514069.1:n.116+64A>G | |
| XM_005250125.4:c.116+64A>G (DUS4L) | XP_005250182.1:n.116+64A>G | |
| XM_006715844.2:c.116+64A>G (DUS4L) | XP_006715907.1:n.116+64A>G | |
| XM_006715845.3:c.116+64A>G (DUS4L) | XP_006715908.1:n.116+64A>G | |
| XM_011515766.2:c.116+64A>G (DUS4L) | XP_011514068.1:n.116+64A>G | |
| XM_011515767.2:c.116+64A>G (DUS4L) | XP_011514069.1:n.116+64A>G | |
| XM_017011708.1:c.116+64A>G (DUS4L) | XP_016867197.1:n.116+64A>G | |
| XM_017011709.1:c.87+64A>G (DUS4L) | XP_016867198.1:n.87+64A>G | |
| XM_017011710.1:c.87+64A>G (DUS4L) | XP_016867199.1:n.87+64A>G | |
| XM_017011711.1:c.87+64A>G (DUS4L) | XP_016867200.1:n.87+64A>G | |
| XM_017011712.1:c.87+64A>G (DUS4L) | XP_016867201.1:n.87+64A>G | |
| XM_017011713.1:c.87+64A>G (DUS4L) | XP_016867202.1:n.87+64A>G | |
| NM_181581.3:c.116+64A>G (DUS4L) MANE Select | NP_853559.1:n.116+64A>G | |
| NM_001371364.2:c.116+64A>G (DUS4L-BCAP29) | NP_001358293.1:n.116+64A>G | |
| NM_001371365.2:c.116+64A>G (DUS4L-BCAP29) | NP_001358294.1:n.116+64A>G | |
| NM_001371366.2:c.116+64A>G (DUS4L-BCAP29) | NP_001358295.1:n.116+64A>G | |
| NM_001371367.2:c.116+64A>G (DUS4L-BCAP29) | NP_001358296.1:n.116+64A>G | |
| NR_163939.2:n.465+64A>G (DUS4L-BCAP29) | ||
| NR_163940.2:n.503+64A>G (DUS4L-BCAP29) | ||
| NR_163941.2:n.465+64A>G (DUS4L-BCAP29) | ||
| NM_001270419.2:c.116+64A>G (DUS4L) | NP_001257348.1:n.116+64A>G | |
| NR_073002.2:n.503+64A>G (DUS4L) | ||
| NR_073003.2:n.465+64A>G (DUS4L) | ||
| NR_073004.2:n.465+64A>G (DUS4L) | ||
| NR_073005.2:n.315+64A>G (DUS4L) |