Linked Data
dbSNP Id:
rs775665194
ExAC:
1:43672487 GAGAC / G
gnomAD v2:
1-43672487-GAGAC-G
gnomAD v4:
1-43206816-GAGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43206820_43206823del , CM000663.2:g.43206820_43206823del | GRCh38 |
| NC_000001.10:g.43672491_43672494del , CM000663.1:g.43672491_43672494del | GRCh37 |
| NC_000001.9:g.43445078_43445081del | NCBI36 |
| NG_028079.1:g.39491_39494del | |
| NG_028079.2:g.39491_39494del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372492.9:c.1643_1646del (CFAP57) MANE Select | ENSP00000361570.4:p.Thr548AsnfsTer? | |
| ENST00000372492.8:c.1643_1646del (CFAP57) | ENSP00000361570.4:p.Thr548AsnfsTer? | |
| ENST00000461557.2:n.233+4630_233+4633del (EBNA1BP2) | ||
| ENST00000466927.5:n.197+8446_197+8449del (EBNA1BP2) | ||
| ENST00000474566.1:n.420-428_420-425del (EBNA1BP2) | ||
| ENST00000528956.5:c.1643_1646del (CFAP57) | ENSP00000435310.1:p.Thr548AsnfsTer? | |
| ENST00000533339.1:c.*1542_*1545del (CFAP57) | ENSP00000432547.1:n.*1542_*1545del | |
| ENST00000610710.4:c.1643_1646del (CFAP57) | ENSP00000479773.1:p.Thr548AsnfsTer? | |
| NM_001167965.1:c.1643_1646del (CFAP57) | NP_001161437.1:p.Thr548AsnfsTer? | |
| NM_001195831.2:c.1643_1646del (CFAP57) | NP_001182760.2:p.Thr548AsnfsTer? | |
| NM_152498.3:c.1643_1646del (CFAP57) | NP_689711.2:p.Thr548AsnfsTer? | |
| XM_005270520.1:c.1643_1646del (CFAP57) | XP_005270577.1:p.Thr548AsnfsTer? | |
| XM_006710383.1:c.1610_1613del (CFAP57) | XP_006710446.1:p.Thr537AsnfsTer? | |
| XM_011540793.1:c.1643_1646del (CFAP57) | XP_011539095.1:p.Thr548AsnfsTer? | |
| XM_011540794.1:c.1643_1646del (CFAP57) | XP_011539096.1:p.Thr548AsnfsTer? | |
| XM_011540795.1:c.1643_1646del (CFAP57) | XP_011539097.1:p.Thr548AsnfsTer? | |
| XM_011540796.1:c.1610_1613del (CFAP57) | XP_011539098.1:p.Thr537AsnfsTer? | |
| XM_011540797.1:c.1580_1583del (CFAP57) | XP_011539099.1:p.Thr527AsnfsTer? | |
| XM_011540798.1:c.1543-2923_1543-2920del (CFAP57) | XP_011539100.1:n.1543-2923_1543-2920del | |
| XM_011540799.1:c.1542+7317_1542+7320del (CFAP57) | XP_011539101.1:n.1542+7317_1542+7320del | |
| XM_011540800.1:c.1643_1646del (CFAP57) | XP_011539102.1:p.Thr548AsnfsTer? | |
| XM_011540801.1:c.1643_1646del (CFAP57) | XP_011539103.1:p.Thr548AsnfsTer? | |
| XR_947266.1:n.450-428_450-425del | ||
| XR_947267.1:n.455-428_455-425del | ||
| XR_947268.1:n.240-428_240-425del | ||
| XR_947269.1:n.1064-428_1064-425del | ||
| XR_947270.1:n.214-428_214-425del | ||
| XR_947271.1:n.885-428_885-425del | ||
| XR_947273.1:n.448+8446_448+8449del | ||
| XR_947274.1:n.453-428_453-425del | ||
| XM_005270520.2:c.1643_1646del (CFAP57) | XP_005270577.1:p.Thr548AsnfsTer? | |
| XM_011540795.3:c.1643_1646del (CFAP57) | XP_011539097.1:p.Thr548AsnfsTer? | |
| XM_011540797.2:c.1580_1583del (CFAP57) | XP_011539099.1:p.Thr527AsnfsTer? | |
| XM_011540800.2:c.1643_1646del (CFAP57) | XP_011539102.1:p.Thr548AsnfsTer? | |
| XM_017000421.1:c.1643_1646del (CFAP57) | XP_016855910.1:p.Thr548AsnfsTer? | |
| XM_017000422.2:c.1643_1646del (CFAP57) | XP_016855911.1:p.Thr548AsnfsTer? | |
| XR_001736994.2:n.1772_1775del (CFAP57) | ||
| XR_001738021.1:n.532-428_532-425del | ||
| XR_001738022.1:n.529-428_529-425del | ||
| XR_001738023.2:n.827-428_827-425del | ||
| XR_001738024.1:n.539+8446_539+8449del | ||
| XR_947266.2:n.521-428_521-425del | ||
| XR_947268.2:n.247-428_247-425del | ||
| XR_947271.2:n.888-428_888-425del | ||
| XR_947273.2:n.538+8446_538+8449del | ||
| XR_947274.2:n.827-428_827-425del | ||
| NM_001195831.3:c.1643_1646del (CFAP57) | NP_001182760.2:p.Thr548AsnfsTer? | |
| NM_001378189.1:c.1643_1646del (CFAP57) MANE Select | NP_001365118.1:p.Thr548AsnfsTer? |