Linked Data
ClinVar Variation Id:
420305
dbSNP Id:
rs765483630
ExAC:
16:773877 CT / C
gnomAD v2:
16-773877-CT-C
gnomAD v3:
16-723877-CT-C
gnomAD v4:
16-723877-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.723878del , CM000678.2:g.723878del | GRCh38 |
| NC_000016.9:g.773878del , CM000678.1:g.773878del | GRCh37 |
| NC_000016.8:g.713879del | NCBI36 |
| NG_032932.1:g.7596del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682391.1:n.1655del (CCDC78) | ||
| ENST00000345165.10:c.1112del (CCDC78) MANE Select | ENSP00000316851.5:p.Gln371ArgfsTer? | |
| ENST00000293889.10:c.1112del (CCDC78) | ENSP00000293889.6:p.Gln371ArgfsTer? | |
| ENST00000345165.8:c.658del (CCDC78) | ||
| ENST00000463539.5:n.1434del (CCDC78) | ||
| ENST00000466708.5:n.1456del (CCDC78) | ||
| ENST00000478979.5:n.1759del (CCDC78) | ||
| ENST00000481804.5:n.2090del (CCDC78) | ||
| ENST00000482152.1:n.473del (CCDC78) | ||
| ENST00000482878.5:n.2162del (CCDC78) | ||
| ENST00000485091.5:n.1265del (CCDC78) | ||
| ENST00000620831.4:c.-49-38754del (MSLN) | ENSP00000482893.1:n.-49-38754del | |
| NM_001031737.2:c.1112del (CCDC78) | NP_001026907.2:p.Gln371ArgfsTer? | |
| XM_006720838.1:c.1334del (CCDC78) | XP_006720901.1:p.Gln445ArgfsTer? | |
| XM_006720843.2:c.1112del (CCDC78) | XP_006720906.1:p.Gln371ArgfsTer? | |
| XM_011522356.1:c.1559del (CCDC78) | XP_011520658.1:p.Gln520ArgfsTer? | |
| XM_011522357.1:c.1547del (CCDC78) | XP_011520659.1:p.Gln516ArgfsTer? | |
| XM_011522358.1:c.1559del (CCDC78) | XP_011520660.1:p.Gln520ArgfsTer? | |
| XM_011522359.1:c.1526del (CCDC78) | XP_011520661.1:p.Gln509ArgfsTer? | |
| XM_011522360.1:c.1514del (CCDC78) | XP_011520662.1:p.Gln505ArgfsTer? | |
| XM_011522361.1:c.1559del (CCDC78) | XP_011520663.1:p.Gln520ArgfsTer? | |
| XM_011522362.1:c.1559del (CCDC78) | XP_011520664.1:p.Gln520ArgfsTer? | |
| XM_011522363.1:c.1559del (CCDC78) | XP_011520665.1:p.Gln520ArgfsTer? | |
| XM_011522364.1:c.1559del (CCDC78) | XP_011520666.1:p.Gln520ArgfsTer? | |
| XM_011522365.1:c.1346del (CCDC78) | XP_011520667.1:p.Gln449ArgfsTer? | |
| XM_011522366.1:c.1337del (CCDC78) | XP_011520668.1:p.Gln446ArgfsTer? | |
| XM_011522367.1:c.1178del (CCDC78) | XP_011520669.1:p.Gln393ArgfsTer? | |
| XM_011522368.1:c.1166del (CCDC78) | XP_011520670.1:p.Gln389ArgfsTer? | |
| XM_011522369.1:c.1124del (CCDC78) | XP_011520671.1:p.Gln375ArgfsTer? | |
| XM_011522370.1:c.956del (CCDC78) | XP_011520672.1:p.Gln319ArgfsTer? | |
| XM_011522371.1:c.671del (CCDC78) | XP_011520673.1:p.Gln224ArgfsTer? | |
| XM_006720843.4:c.1112del (CCDC78) | XP_006720906.1:p.Gln371ArgfsTer? | |
| XM_011522358.2:c.1559del (CCDC78) | XP_011520660.1:p.Gln520ArgfsTer? | |
| XM_011522371.2:c.671del (CCDC78) | XP_011520673.1:p.Gln224ArgfsTer? | |
| XM_017022929.1:c.1559del (CCDC78) | XP_016878418.1:p.Gln520ArgfsTer? | |
| XM_017022930.1:c.659del (CCDC78) | XP_016878419.1:p.Gln220ArgfsTer? | |
| XM_017022931.1:c.-142del (CCDC78) | XP_016878420.1:n.-142del | |
| XM_024450150.1:c.389del (CCDC78) | XP_024305918.1:p.Gln130ArgfsTer? | |
| XR_001751835.1:n.1898del (CCDC78) | ||
| XR_001751836.1:n.1877del (CCDC78) | ||
| XR_001751837.1:n.1655del (CCDC78) | ||
| XR_001751838.1:n.2001del (CCDC78) | ||
| XR_001751839.1:n.1463del (CCDC78) | ||
| NM_001031737.3:c.1112del (CCDC78) | NP_001026907.2:p.Gln371ArgfsTer? | |
| NM_001378030.1:c.1112del (CCDC78) MANE Select | NP_001364959.1:p.Gln371ArgfsTer? | |
| NM_001378031.1:c.953+444del (CCDC78) | NP_001364960.1:n.953+444del | |
| NM_001378033.1:c.545del (CCDC78) | NP_001364962.1:p.Gln182ArgfsTer? | |
| NR_165382.1:n.1669del (CCDC78) | ||
| NR_165383.1:n.1315del (CCDC78) | ||
| NR_165384.1:n.1280del (CCDC78) | ||
| NR_165385.1:n.1380del (CCDC78) | ||
| NR_165386.1:n.1447del (CCDC78) |