Canonical Allele Identifier: CA2630856588

Linked Data

gnomAD v4: 16-723904-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723908del , CM000678.2:g.723908del GRCh38
NC_000016.9:g.773908del , CM000678.1:g.773908del GRCh37
NC_000016.8:g.713909del NCBI36
NG_032932.1:g.7569del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1628del (CCDC78)
ENST00000345165.10:c.1085del (CCDC78) MANE Select ENSP00000316851.5:p.Pro362GlnfsTer?
ENST00000293889.10:c.1085del (CCDC78) ENSP00000293889.6:p.Pro362GlnfsTer?
ENST00000345165.8:c.631del (CCDC78)
ENST00000463539.5:n.1407del (CCDC78)
ENST00000466708.5:n.1429del (CCDC78)
ENST00000478979.5:n.1732del (CCDC78)
ENST00000481804.5:n.2063del (CCDC78)
ENST00000482152.1:n.446del (CCDC78)
ENST00000482878.5:n.2135del (CCDC78)
ENST00000485091.5:n.1238del (CCDC78)
ENST00000620831.4:c.-49-38724del (MSLN) ENSP00000482893.1:n.-49-38724del
NM_001031737.2:c.1085del (CCDC78) NP_001026907.2:p.Pro362GlnfsTer?
XM_006720838.1:c.1307del (CCDC78) XP_006720901.1:p.Pro436GlnfsTer?
XM_006720843.2:c.1085del (CCDC78) XP_006720906.1:p.Pro362GlnfsTer?
XM_011522356.1:c.1532del (CCDC78) XP_011520658.1:p.Pro511GlnfsTer?
XM_011522357.1:c.1520del (CCDC78) XP_011520659.1:p.Pro507GlnfsTer?
XM_011522358.1:c.1532del (CCDC78) XP_011520660.1:p.Pro511GlnfsTer?
XM_011522359.1:c.1499del (CCDC78) XP_011520661.1:p.Pro500GlnfsTer?
XM_011522360.1:c.1487del (CCDC78) XP_011520662.1:p.Pro496GlnfsTer?
XM_011522361.1:c.1532del (CCDC78) XP_011520663.1:p.Pro511GlnfsTer?
XM_011522362.1:c.1532del (CCDC78) XP_011520664.1:p.Pro511GlnfsTer?
XM_011522363.1:c.1532del (CCDC78) XP_011520665.1:p.Pro511GlnfsTer?
XM_011522364.1:c.1532del (CCDC78) XP_011520666.1:p.Pro511GlnfsTer?
XM_011522365.1:c.1319del (CCDC78) XP_011520667.1:p.Pro440GlnfsTer?
XM_011522366.1:c.1310del (CCDC78) XP_011520668.1:p.Pro437GlnfsTer?
XM_011522367.1:c.1151del (CCDC78) XP_011520669.1:p.Pro384GlnfsTer?
XM_011522368.1:c.1139del (CCDC78) XP_011520670.1:p.Pro380GlnfsTer?
XM_011522369.1:c.1097del (CCDC78) XP_011520671.1:p.Pro366GlnfsTer?
XM_011522370.1:c.929del (CCDC78) XP_011520672.1:p.Pro310GlnfsTer?
XM_011522371.1:c.644del (CCDC78) XP_011520673.1:p.Pro215GlnfsTer?
XM_006720843.4:c.1085del (CCDC78) XP_006720906.1:p.Pro362GlnfsTer?
XM_011522358.2:c.1532del (CCDC78) XP_011520660.1:p.Pro511GlnfsTer?
XM_011522371.2:c.644del (CCDC78) XP_011520673.1:p.Pro215GlnfsTer?
XM_017022929.1:c.1532del (CCDC78) XP_016878418.1:p.Pro511GlnfsTer?
XM_017022930.1:c.632del (CCDC78) XP_016878419.1:p.Pro211GlnfsTer?
XM_017022931.1:c.-169del (CCDC78) XP_016878420.1:n.-169del
XM_024450150.1:c.362del (CCDC78) XP_024305918.1:p.Pro121GlnfsTer?
XR_001751835.1:n.1871del (CCDC78)
XR_001751836.1:n.1850del (CCDC78)
XR_001751837.1:n.1628del (CCDC78)
XR_001751838.1:n.1974del (CCDC78)
XR_001751839.1:n.1436del (CCDC78)
NM_001031737.3:c.1085del (CCDC78) NP_001026907.2:p.Pro362GlnfsTer?
NM_001378030.1:c.1085del (CCDC78) MANE Select NP_001364959.1:p.Pro362GlnfsTer?
NM_001378031.1:c.953+417del (CCDC78) NP_001364960.1:n.953+417del
NM_001378033.1:c.518del (CCDC78) NP_001364962.1:p.Pro173GlnfsTer?
NR_165382.1:n.1642del (CCDC78)
NR_165383.1:n.1288del (CCDC78)
NR_165384.1:n.1253del (CCDC78)
NR_165385.1:n.1353del (CCDC78)
NR_165386.1:n.1420del (CCDC78)