Canonical Allele Identifier: CA1680192149

Gene: CEP43

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024969_167024970delinsAT , CM000668.2:g.167024969_167024970delinsAT	GRCh38
NC_000006.11:g.167438457_167438458delinsAT , CM000668.1:g.167438457_167438458delinsAT	GRCh37
NC_000006.10:g.167358447_167358448delinsAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.859+75_859+76delinsAT	ENSP00000230248.6:n.859+75_859+76delinsAT
ENST00000488525.2:c.*51+75_*51+76delinsAT	ENSP00000516042.1:n.*51+75_*51+76delinsAT
ENST00000609590.2:n.1791+75_1791+76delinsAT
ENST00000704900.1:c.496+75_496+76delinsAT	ENSP00000516059.1:n.496+75_496+76delinsAT
ENST00000704901.1:c.*506+75_*506+76delinsAT	ENSP00000516060.1:n.*506+75_*506+76delinsAT
ENST00000704959.1:n.1184+75_1184+76delinsAT
ENST00000704982.1:n.1629+75_1629+76delinsAT
ENST00000704985.1:n.2025+75_2025+76delinsAT
ENST00000704986.1:n.2025+75_2025+76delinsAT
ENST00000705029.1:n.1750+75_1750+76delinsAT
ENST00000705059.1:n.1574+75_1574+76delinsAT
ENST00000705168.1:c.172+75_172+76delinsAT	ENSP00000516071.1:n.172+75_172+76delinsAT
ENST00000705169.1:c.172+75_172+76delinsAT	ENSP00000516072.1:n.172+75_172+76delinsAT
ENST00000705170.1:c.172+75_172+76delinsAT	ENSP00000516073.1:n.172+75_172+76delinsAT
ENST00000705171.1:n.964+75_964+76delinsAT
ENST00000705173.1:c.*228+75_*228+76delinsAT	ENSP00000516075.1:n.*228+75_*228+76delinsAT
ENST00000705175.1:c.1045+75_1045+76delinsAT	ENSP00000516077.1:n.1045+75_1045+76delinsAT
ENST00000705176.1:c.1105+75_1105+76delinsAT	ENSP00000516078.1:n.1105+75_1105+76delinsAT
ENST00000705177.1:c.*503+75_*503+76delinsAT	ENSP00000516079.1:n.*503+75_*503+76delinsAT
ENST00000705178.1:c.442+75_442+76delinsAT	ENSP00000516080.1:n.442+75_442+76delinsAT
ENST00000705179.1:c.637+75_637+76delinsAT	ENSP00000516081.1:n.637+75_637+76delinsAT
ENST00000705180.1:c.577+75_577+76delinsAT	ENSP00000516082.1:n.577+75_577+76delinsAT
ENST00000705235.1:c.919+75_919+76delinsAT	ENSP00000516093.1:n.919+75_919+76delinsAT
ENST00000705236.1:c.859+75_859+76delinsAT	ENSP00000516094.1:n.859+75_859+76delinsAT
ENST00000705237.1:c.577+75_577+76delinsAT	ENSP00000516095.1:n.577+75_577+76delinsAT
ENST00000705238.1:c.778+75_778+76delinsAT	ENSP00000516096.1:n.778+75_778+76delinsAT
ENST00000705239.1:c.856+75_856+76delinsAT	ENSP00000516097.1:n.856+75_856+76delinsAT
ENST00000705240.1:c.*528+75_*528+76delinsAT	ENSP00000516098.1:n.*528+75_*528+76delinsAT
ENST00000705241.1:c.*51+75_*51+76delinsAT	ENSP00000516099.1:n.*51+75_*51+76delinsAT
ENST00000705242.1:c.856+75_856+76delinsAT	ENSP00000516100.1:n.856+75_856+76delinsAT
ENST00000705249.1:c.859+75_859+76delinsAT	ENSP00000516101.1:n.859+75_859+76delinsAT
ENST00000705250.1:c.637+75_637+76delinsAT	ENSP00000516102.1:n.637+75_637+76delinsAT
ENST00000705251.1:c.*506+75_*506+76delinsAT	ENSP00000516103.1:n.*506+75_*506+76delinsAT
ENST00000705252.1:c.*329+75_*329+76delinsAT	ENSP00000516104.1:n.*329+75_*329+76delinsAT
ENST00000705253.1:c.*329+75_*329+76delinsAT	ENSP00000516105.1:n.*329+75_*329+76delinsAT
ENST00000705254.1:c.466+75_466+76delinsAT	ENSP00000516106.1:n.466+75_466+76delinsAT
ENST00000705255.1:n.1485+75_1485+76delinsAT
ENST00000705256.1:c.916+75_916+76delinsAT	ENSP00000516107.1:n.916+75_916+76delinsAT
ENST00000366847.9:c.919+75_919+76delinsAT MANE Select	ENSP00000355812.3:n.919+75_919+76delinsAT
ENST00000349556.4:c.859+75_859+76delinsAT	ENSP00000230248.6:n.859+75_859+76delinsAT
ENST00000366847.8:c.919+75_919+76delinsAT	ENSP00000355812.3:n.919+75_919+76delinsAT
ENST00000488525.1:n.105+75_105+76delinsAT
ENST00000496181.1:n.398_399delinsAT
ENST00000622353.4:c.778+75_778+76delinsAT	ENSP00000479115.1:n.778+75_778+76delinsAT
NM_001278690.1:c.778+75_778+76delinsAT	NP_001265619.1:n.778+75_778+76delinsAT
NM_007045.3:c.919+75_919+76delinsAT	NP_008976.1:n.919+75_919+76delinsAT
NM_194429.2:c.859+75_859+76delinsAT	NP_919410.1:n.859+75_859+76delinsAT
NM_007045.4:c.919+75_919+76delinsAT MANE Select	NP_008976.1:n.919+75_919+76delinsAT
NM_194429.3:c.859+75_859+76delinsAT	NP_919410.1:n.859+75_859+76delinsAT
NM_001278690.2:c.778+75_778+76delinsAT	NP_001265619.1:n.778+75_778+76delinsAT