Canonical Allele Identifier: CA973633867

Linked Data

dbSNP Id: rs2040543482

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723935_723936dup , CM000678.2:g.723935_723936dup GRCh38
NC_000016.9:g.773935_773936dup , CM000678.1:g.773935_773936dup GRCh37
NC_000016.8:g.713936_713937dup NCBI36
NG_032932.1:g.7539_7540dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1598_1599dup (CCDC78)
ENST00000345165.10:c.1055_1056dup (CCDC78) MANE Select ENSP00000316851.5:p.Gly353ThrfsTer?
ENST00000293889.10:c.1055_1056dup (CCDC78) ENSP00000293889.6:p.Gly353ThrfsTer?
ENST00000345165.8:c.601_602dup (CCDC78)
ENST00000463539.5:n.1377_1378dup (CCDC78)
ENST00000466708.5:n.1399_1400dup (CCDC78)
ENST00000478979.5:n.1702_1703dup (CCDC78)
ENST00000481804.5:n.2033_2034dup (CCDC78)
ENST00000482152.1:n.416_417dup (CCDC78)
ENST00000482878.5:n.2105_2106dup (CCDC78)
ENST00000485091.5:n.1208_1209dup (CCDC78)
ENST00000620831.4:c.-49-38697_-49-38696dup (MSLN) ENSP00000482893.1:n.-49-38697_-49-38696dup
NM_001031737.2:c.1055_1056dup (CCDC78) NP_001026907.2:p.Gly353ThrfsTer?
XM_006720838.1:c.1277_1278dup (CCDC78) XP_006720901.1:p.Gly427ThrfsTer?
XM_006720843.2:c.1055_1056dup (CCDC78) XP_006720906.1:p.Gly353ThrfsTer?
XM_011522356.1:c.1502_1503dup (CCDC78) XP_011520658.1:p.Gly502ThrfsTer?
XM_011522357.1:c.1490_1491dup (CCDC78) XP_011520659.1:p.Gly498ThrfsTer?
XM_011522358.1:c.1502_1503dup (CCDC78) XP_011520660.1:p.Gly502ThrfsTer?
XM_011522359.1:c.1469_1470dup (CCDC78) XP_011520661.1:p.Gly491ThrfsTer?
XM_011522360.1:c.1457_1458dup (CCDC78) XP_011520662.1:p.Gly487ThrfsTer?
XM_011522361.1:c.1502_1503dup (CCDC78) XP_011520663.1:p.Gly502ThrfsTer?
XM_011522362.1:c.1502_1503dup (CCDC78) XP_011520664.1:p.Gly502ThrfsTer?
XM_011522363.1:c.1502_1503dup (CCDC78) XP_011520665.1:p.Gly502ThrfsTer?
XM_011522364.1:c.1502_1503dup (CCDC78) XP_011520666.1:p.Gly502ThrfsTer?
XM_011522365.1:c.1289_1290dup (CCDC78) XP_011520667.1:p.Gly431ThrfsTer?
XM_011522366.1:c.1280_1281dup (CCDC78) XP_011520668.1:p.Gly428ThrfsTer?
XM_011522367.1:c.1121_1122dup (CCDC78) XP_011520669.1:p.Gly375ThrfsTer?
XM_011522368.1:c.1109_1110dup (CCDC78) XP_011520670.1:p.Gly371ThrfsTer?
XM_011522369.1:c.1067_1068dup (CCDC78) XP_011520671.1:p.Gly357ThrfsTer?
XM_011522370.1:c.899_900dup (CCDC78) XP_011520672.1:p.Gly301ThrfsTer?
XM_011522371.1:c.614_615dup (CCDC78) XP_011520673.1:p.Gly206ThrfsTer?
XM_006720843.4:c.1055_1056dup (CCDC78) XP_006720906.1:p.Gly353ThrfsTer?
XM_011522358.2:c.1502_1503dup (CCDC78) XP_011520660.1:p.Gly502ThrfsTer?
XM_011522371.2:c.614_615dup (CCDC78) XP_011520673.1:p.Gly206ThrfsTer?
XM_017022929.1:c.1502_1503dup (CCDC78) XP_016878418.1:p.Gly502ThrfsTer?
XM_017022930.1:c.602_603dup (CCDC78) XP_016878419.1:p.Gly202ThrfsTer?
XM_017022931.1:c.-199_-198dup (CCDC78) XP_016878420.1:n.-199_-198dup
XM_024450150.1:c.332_333dup (CCDC78) XP_024305918.1:p.Gly112ThrfsTer?
XR_001751835.1:n.1841_1842dup (CCDC78)
XR_001751836.1:n.1820_1821dup (CCDC78)
XR_001751837.1:n.1598_1599dup (CCDC78)
XR_001751838.1:n.1944_1945dup (CCDC78)
XR_001751839.1:n.1406_1407dup (CCDC78)
NM_001031737.3:c.1055_1056dup (CCDC78) NP_001026907.2:p.Gly353ThrfsTer?
NM_001378030.1:c.1055_1056dup (CCDC78) MANE Select NP_001364959.1:p.Gly353ThrfsTer?
NM_001378031.1:c.953+387_953+388dup (CCDC78) NP_001364960.1:n.953+387_953+388dup
NM_001378033.1:c.488_489dup (CCDC78) NP_001364962.1:p.Gly164ThrfsTer?
NR_165382.1:n.1612_1613dup (CCDC78)
NR_165383.1:n.1258_1259dup (CCDC78)
NR_165384.1:n.1223_1224dup (CCDC78)
NR_165385.1:n.1323_1324dup (CCDC78)
NR_165386.1:n.1390_1391dup (CCDC78)