Canonical Allele Identifier: CA2681188480
Gene: CEP43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024922_167024923insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT , CM000668.2:g.167024922_167024923insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT GRCh38
NC_000006.11:g.167438410_167438411insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT , CM000668.1:g.167438410_167438411insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT GRCh37
NC_000006.10:g.167358400_167358401insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000349556.5:c.859+28_859+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000230248.6:n.859+28_859+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000488525.2:c.*51+28_*51+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516042.1:n.*51+28_*51+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000609590.2:n.1791+28_1791+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT
ENST00000704900.1:c.496+28_496+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516059.1:n.496+28_496+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000704901.1:c.*506+28_*506+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516060.1:n.*506+28_*506+29insTCTCTGGATATTTTTTCTCTAAT...
ENST00000704959.1:n.1184+28_1184+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT
ENST00000704982.1:n.1629+28_1629+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT
ENST00000704985.1:n.2025+28_2025+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT
ENST00000704986.1:n.2025+28_2025+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT
ENST00000705029.1:n.1750+28_1750+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT
ENST00000705059.1:n.1574+28_1574+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT
ENST00000705168.1:c.172+28_172+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516071.1:n.172+28_172+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705169.1:c.172+28_172+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516072.1:n.172+28_172+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705170.1:c.172+28_172+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516073.1:n.172+28_172+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705171.1:n.964+28_964+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT
ENST00000705173.1:c.*228+28_*228+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516075.1:n.*228+28_*228+29insTCTCTGGATATTTTTTCTCTAAT...
ENST00000705175.1:c.1045+28_1045+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516077.1:n.1045+28_1045+29insTCTCTGGATATTTTTTCTCTAAT...
ENST00000705176.1:c.1105+28_1105+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516078.1:n.1105+28_1105+29insTCTCTGGATATTTTTTCTCTAAT...
ENST00000705177.1:c.*503+28_*503+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516079.1:n.*503+28_*503+29insTCTCTGGATATTTTTTCTCTAAT...
ENST00000705178.1:c.442+28_442+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516080.1:n.442+28_442+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705179.1:c.637+28_637+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516081.1:n.637+28_637+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705180.1:c.577+28_577+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516082.1:n.577+28_577+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705235.1:c.919+28_919+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516093.1:n.919+28_919+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705236.1:c.859+28_859+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516094.1:n.859+28_859+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705237.1:c.577+28_577+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516095.1:n.577+28_577+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705238.1:c.778+28_778+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516096.1:n.778+28_778+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705239.1:c.856+28_856+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516097.1:n.856+28_856+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705240.1:c.*528+28_*528+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516098.1:n.*528+28_*528+29insTCTCTGGATATTTTTTCTCTAAT...
ENST00000705241.1:c.*51+28_*51+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516099.1:n.*51+28_*51+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705242.1:c.856+28_856+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516100.1:n.856+28_856+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705249.1:c.859+28_859+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516101.1:n.859+28_859+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705250.1:c.637+28_637+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516102.1:n.637+28_637+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705251.1:c.*506+28_*506+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516103.1:n.*506+28_*506+29insTCTCTGGATATTTTTTCTCTAAT...
ENST00000705252.1:c.*329+28_*329+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516104.1:n.*329+28_*329+29insTCTCTGGATATTTTTTCTCTAAT...
ENST00000705253.1:c.*329+28_*329+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516105.1:n.*329+28_*329+29insTCTCTGGATATTTTTTCTCTAAT...
ENST00000705254.1:c.466+28_466+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516106.1:n.466+28_466+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000705255.1:n.1485+28_1485+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT
ENST00000705256.1:c.916+28_916+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000516107.1:n.916+28_916+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000366847.9:c.919+28_919+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT MANE Select ENSP00000355812.3:n.919+28_919+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000349556.4:c.859+28_859+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000230248.6:n.859+28_859+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000366847.8:c.919+28_919+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000355812.3:n.919+28_919+29insTCTCTGGATATTTTTTCTCTAATTA...
ENST00000488525.1:n.105+28_105+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT
ENST00000496181.1:n.351_352insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT
ENST00000622353.4:c.778+28_778+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT ENSP00000479115.1:n.778+28_778+29insTCTCTGGATATTTTTTCTCTAATTA...
NM_001278690.1:c.778+28_778+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT NP_001265619.1:n.778+28_778+29insTCTCTGGATATTTTTTCTCTAATTAAAT...
NM_007045.3:c.919+28_919+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT NP_008976.1:n.919+28_919+29insTCTCTGGATATTTTTTCTCTAATTAAATACT...
NM_194429.2:c.859+28_859+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT NP_919410.1:n.859+28_859+29insTCTCTGGATATTTTTTCTCTAATTAAATACT...
NM_007045.4:c.919+28_919+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT MANE Select NP_008976.1:n.919+28_919+29insTCTCTGGATATTTTTTCTCTAATTAAATACT...
NM_194429.3:c.859+28_859+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT NP_919410.1:n.859+28_859+29insTCTCTGGATATTTTTTCTCTAATTAAATACT...
NM_001278690.2:c.778+28_778+29insTCTCTGGATATTTTTTCTCTAATTAAATACTATGTGATTATTGTTGATTTTTTTTCCCAGGAAAATCACTAAAATAACCTTCAAT NP_001265619.1:n.778+28_778+29insTCTCTGGATATTTTTTCTCTAATTAAAT...