Canonical Allele Identifier: CA276519739

Linked Data

ClinVar Variation Id: 1235749
ClinVar RCV Id: RCV001619347
dbSNP Id: rs59709519

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.724052_724069del , CM000678.2:g.724052_724069del GRCh38
NC_000016.9:g.774052_774069del , CM000678.1:g.774052_774069del GRCh37
NC_000016.8:g.714053_714070del NCBI36
NG_032932.1:g.7411_7428del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1596+43_1596+60del (CCDC78)
ENST00000345165.10:c.1053+43_1053+60del (CCDC78) MANE Select ENSP00000316851.5:n.1053+43_1053+60del
ENST00000293889.10:c.1053+43_1053+60del (CCDC78) ENSP00000293889.6:n.1053+43_1053+60del
ENST00000345165.8:c.599+43_599+60del (CCDC78)
ENST00000463539.5:n.1375+43_1375+60del (CCDC78)
ENST00000466708.5:n.1397+43_1397+60del (CCDC78)
ENST00000478979.5:n.1574_1591del (CCDC78)
ENST00000481804.5:n.2031+43_2031+60del (CCDC78)
ENST00000482152.1:n.414+43_414+60del (CCDC78)
ENST00000482878.5:n.1977_1994del (CCDC78)
ENST00000485091.5:n.1206+43_1206+60del (CCDC78)
ENST00000620831.4:c.-49-38580_-49-38563del (MSLN) ENSP00000482893.1:n.-49-38580_-49-38563del
NM_001031737.2:c.1053+43_1053+60del (CCDC78) NP_001026907.2:n.1053+43_1053+60del
XM_006720838.1:c.1275+43_1275+60del (CCDC78) XP_006720901.1:n.1275+43_1275+60del
XM_006720843.2:c.1053+43_1053+60del (CCDC78) XP_006720906.1:n.1053+43_1053+60del
XM_011522356.1:c.1500+43_1500+60del (CCDC78) XP_011520658.1:n.1500+43_1500+60del
XM_011522357.1:c.1488+43_1488+60del (CCDC78) XP_011520659.1:n.1488+43_1488+60del
XM_011522358.1:c.1500+43_1500+60del (CCDC78) XP_011520660.1:n.1500+43_1500+60del
XM_011522359.1:c.1467+43_1467+60del (CCDC78) XP_011520661.1:n.1467+43_1467+60del
XM_011522360.1:c.1455+43_1455+60del (CCDC78) XP_011520662.1:n.1455+43_1455+60del
XM_011522361.1:c.1500+43_1500+60del (CCDC78) XP_011520663.1:n.1500+43_1500+60del
XM_011522362.1:c.1500+43_1500+60del (CCDC78) XP_011520664.1:n.1500+43_1500+60del
XM_011522363.1:c.1500+43_1500+60del (CCDC78) XP_011520665.1:n.1500+43_1500+60del
XM_011522364.1:c.1500+43_1500+60del (CCDC78) XP_011520666.1:n.1500+43_1500+60del
XM_011522365.1:c.1287+43_1287+60del (CCDC78) XP_011520667.1:n.1287+43_1287+60del
XM_011522366.1:c.1278+43_1278+60del (CCDC78) XP_011520668.1:n.1278+43_1278+60del
XM_011522367.1:c.1119+43_1119+60del (CCDC78) XP_011520669.1:n.1119+43_1119+60del
XM_011522368.1:c.1107+43_1107+60del (CCDC78) XP_011520670.1:n.1107+43_1107+60del
XM_011522369.1:c.1065+43_1065+60del (CCDC78) XP_011520671.1:n.1065+43_1065+60del
XM_011522370.1:c.897+43_897+60del (CCDC78) XP_011520672.1:n.897+43_897+60del
XM_011522371.1:c.612+43_612+60del (CCDC78) XP_011520673.1:n.612+43_612+60del
XM_006720843.4:c.1053+43_1053+60del (CCDC78) XP_006720906.1:n.1053+43_1053+60del
XM_011522358.2:c.1500+43_1500+60del (CCDC78) XP_011520660.1:n.1500+43_1500+60del
XM_011522371.2:c.612+43_612+60del (CCDC78) XP_011520673.1:n.612+43_612+60del
XM_017022929.1:c.1500+43_1500+60del (CCDC78) XP_016878418.1:n.1500+43_1500+60del
XM_017022930.1:c.600+43_600+60del (CCDC78) XP_016878419.1:n.600+43_600+60del
XM_017022931.1:c.-327_-310del (CCDC78) XP_016878420.1:n.-327_-310del
XM_024450150.1:c.330+43_330+60del (CCDC78) XP_024305918.1:n.330+43_330+60del
XR_001751835.1:n.1839+43_1839+60del (CCDC78)
XR_001751836.1:n.1818+43_1818+60del (CCDC78)
XR_001751837.1:n.1596+43_1596+60del (CCDC78)
XR_001751838.1:n.1942+43_1942+60del (CCDC78)
XR_001751839.1:n.1404+43_1404+60del (CCDC78)
NM_001031737.3:c.1053+43_1053+60del (CCDC78) NP_001026907.2:n.1053+43_1053+60del
NM_001378030.1:c.1053+43_1053+60del (CCDC78) MANE Select NP_001364959.1:n.1053+43_1053+60del
NM_001378031.1:c.953+259_953+276del (CCDC78) NP_001364960.1:n.953+259_953+276del
NM_001378033.1:c.486+43_486+60del (CCDC78) NP_001364962.1:n.486+43_486+60del
NR_165382.1:n.1610+43_1610+60del (CCDC78)
NR_165383.1:n.1256+43_1256+60del (CCDC78)
NR_165384.1:n.1221+43_1221+60del (CCDC78)
NR_165385.1:n.1321+43_1321+60del (CCDC78)
NR_165386.1:n.1388+43_1388+60del (CCDC78)