Canonical Allele Identifier: CA2630859076

Linked Data

gnomAD v4: 16-724137-AG-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724141del , CM000678.2:g.724141del GRCh38
NC_000016.9:g.774141del , CM000678.1:g.774141del GRCh37
NC_000016.8:g.714142del NCBI36
NG_032932.1:g.7336del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1564del (CCDC78)
ENST00000345165.10:c.1021del (CCDC78) MANE Select ENSP00000316851.5:p.Leu341TrpfsTer?
ENST00000293889.10:c.1021del (CCDC78) ENSP00000293889.6:p.Leu341TrpfsTer?
ENST00000345165.8:c.567del (CCDC78)
ENST00000463539.5:n.1343del (CCDC78)
ENST00000466708.5:n.1365del (CCDC78)
ENST00000478979.5:n.1499del (CCDC78)
ENST00000481804.5:n.1999del (CCDC78)
ENST00000482152.1:n.382del (CCDC78)
ENST00000482878.5:n.1902del (CCDC78)
ENST00000485091.5:n.1174del (CCDC78)
ENST00000620831.4:c.-49-38491del (MSLN) ENSP00000482893.1:n.-49-38491del
NM_001031737.2:c.1021del (CCDC78) NP_001026907.2:p.Leu341TrpfsTer?
XM_006720838.1:c.1243del (CCDC78) XP_006720901.1:p.Leu415TrpfsTer?
XM_006720843.2:c.1021del (CCDC78) XP_006720906.1:p.Leu341TrpfsTer?
XM_011522356.1:c.1468del (CCDC78) XP_011520658.1:p.Leu490TrpfsTer?
XM_011522357.1:c.1456del (CCDC78) XP_011520659.1:p.Leu486TrpfsTer?
XM_011522358.1:c.1468del (CCDC78) XP_011520660.1:p.Leu490TrpfsTer?
XM_011522359.1:c.1435del (CCDC78) XP_011520661.1:p.Leu479TrpfsTer?
XM_011522360.1:c.1423del (CCDC78) XP_011520662.1:p.Leu475TrpfsTer?
XM_011522361.1:c.1468del (CCDC78) XP_011520663.1:p.Leu490TrpfsTer?
XM_011522362.1:c.1468del (CCDC78) XP_011520664.1:p.Leu490TrpfsTer?
XM_011522363.1:c.1468del (CCDC78) XP_011520665.1:p.Leu490TrpfsTer?
XM_011522364.1:c.1468del (CCDC78) XP_011520666.1:p.Leu490TrpfsTer?
XM_011522365.1:c.1255del (CCDC78) XP_011520667.1:p.Leu419TrpfsTer?
XM_011522366.1:c.1246del (CCDC78) XP_011520668.1:p.Leu416TrpfsTer?
XM_011522367.1:c.1087del (CCDC78) XP_011520669.1:p.Leu363TrpfsTer?
XM_011522368.1:c.1075del (CCDC78) XP_011520670.1:p.Leu359TrpfsTer?
XM_011522369.1:c.1033del (CCDC78) XP_011520671.1:p.Leu345TrpfsTer?
XM_011522370.1:c.865del (CCDC78) XP_011520672.1:p.Leu289TrpfsTer?
XM_011522371.1:c.580del (CCDC78) XP_011520673.1:p.Leu194TrpfsTer?
XM_006720843.4:c.1021del (CCDC78) XP_006720906.1:p.Leu341TrpfsTer?
XM_011522358.2:c.1468del (CCDC78) XP_011520660.1:p.Leu490TrpfsTer?
XM_011522371.2:c.580del (CCDC78) XP_011520673.1:p.Leu194TrpfsTer?
XM_017022929.1:c.1468del (CCDC78) XP_016878418.1:p.Leu490TrpfsTer?
XM_017022930.1:c.568del (CCDC78) XP_016878419.1:p.Leu190TrpfsTer?
XM_024450150.1:c.298del (CCDC78) XP_024305918.1:p.Leu100TrpfsTer?
XR_001751835.1:n.1807del (CCDC78)
XR_001751836.1:n.1786del (CCDC78)
XR_001751837.1:n.1564del (CCDC78)
XR_001751838.1:n.1910del (CCDC78)
XR_001751839.1:n.1372del (CCDC78)
NM_001031737.3:c.1021del (CCDC78) NP_001026907.2:p.Leu341TrpfsTer?
NM_001378030.1:c.1021del (CCDC78) MANE Select NP_001364959.1:p.Leu341TrpfsTer?
NM_001378031.1:c.953+184del (CCDC78) NP_001364960.1:n.953+184del
NM_001378033.1:c.454del (CCDC78) NP_001364962.1:p.Leu152TrpfsTer?
NR_165382.1:n.1578del (CCDC78)
NR_165383.1:n.1224del (CCDC78)
NR_165384.1:n.1189del (CCDC78)
NR_165385.1:n.1289del (CCDC78)
NR_165386.1:n.1356del (CCDC78)