Canonical Allele Identifier: CA2578796152
Gene: CEP43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024839dup , CM000668.2:g.167024839dup GRCh38
NC_000006.11:g.167438327dup , CM000668.1:g.167438327dup GRCh37
NC_000006.10:g.167358317dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000349556.5:c.804dup ENSP00000230248.6:p.Ser271LysfsTer16
ENST00000488525.2:c.860dup ENSP00000516042.1:p.Ter288LeuextTer?
ENST00000609590.2:n.1736dup
ENST00000704900.1:c.441dup ENSP00000516059.1:p.Ser150LysfsTer16
ENST00000704901.1:c.*451dup ENSP00000516060.1:n.*451dup
ENST00000704959.1:n.1129dup
ENST00000704982.1:n.1574dup
ENST00000704985.1:n.1970dup
ENST00000704986.1:n.1970dup
ENST00000705029.1:n.1695dup
ENST00000705059.1:n.1519dup
ENST00000705168.1:c.117dup ENSP00000516071.1:p.Ser42LysfsTer16
ENST00000705169.1:c.117dup ENSP00000516072.1:p.Ser42LysfsTer16
ENST00000705170.1:c.117dup ENSP00000516073.1:p.Ser42LysfsTer16
ENST00000705171.1:n.909dup
ENST00000705173.1:c.*173dup ENSP00000516075.1:n.*173dup
ENST00000705175.1:c.990dup ENSP00000516077.1:p.Ser333LysfsTer16
ENST00000705176.1:c.1050dup ENSP00000516078.1:p.Ser353LysfsTer16
ENST00000705177.1:c.*448dup ENSP00000516079.1:n.*448dup
ENST00000705178.1:c.387dup ENSP00000516080.1:p.Ser132LysfsTer16
ENST00000705179.1:c.582dup ENSP00000516081.1:p.Ser197LysfsTer16
ENST00000705180.1:c.522dup ENSP00000516082.1:p.Ser177LysfsTer16
ENST00000705235.1:c.864dup ENSP00000516093.1:p.Ser291LysfsTer16
ENST00000705236.1:c.804dup ENSP00000516094.1:p.Ser271LysfsTer16
ENST00000705237.1:c.522dup ENSP00000516095.1:p.Ser177LysfsTer16
ENST00000705238.1:c.723dup ENSP00000516096.1:p.Ser244LysfsTer16
ENST00000705239.1:c.801dup ENSP00000516097.1:p.Ser270LysfsTer16
ENST00000705240.1:c.*473dup ENSP00000516098.1:n.*473dup
ENST00000705241.1:c.800dup ENSP00000516099.1:p.Ter268LeuextTer?
ENST00000705242.1:c.801dup ENSP00000516100.1:p.Ser270LysfsTer16
ENST00000705249.1:c.804dup ENSP00000516101.1:p.Ser271LysfsTer16
ENST00000705250.1:c.582dup ENSP00000516102.1:p.Ser197LysfsTer16
ENST00000705251.1:c.*451dup ENSP00000516103.1:n.*451dup
ENST00000705252.1:c.*274dup ENSP00000516104.1:n.*274dup
ENST00000705253.1:c.*274dup ENSP00000516105.1:n.*274dup
ENST00000705254.1:c.411dup ENSP00000516106.1:p.Ser140LysfsTer16
ENST00000705255.1:n.1430dup
ENST00000705256.1:c.861dup ENSP00000516107.1:p.Ser290LysfsTer16
ENST00000366847.9:c.864dup MANE Select ENSP00000355812.3:p.Ser291LysfsTer16
ENST00000349556.4:c.804dup ENSP00000230248.6:p.Ser271LysfsTer16
ENST00000366847.8:c.864dup ENSP00000355812.3:p.Ser291LysfsTer16
ENST00000488525.1:n.50dup
ENST00000496181.1:n.268dup
ENST00000622353.4:c.723dup ENSP00000479115.1:p.Ser244LysfsTer16
NM_001278690.1:c.723dup NP_001265619.1:p.Ser244LysfsTer16
NM_007045.3:c.864dup NP_008976.1:p.Ser291LysfsTer16
NM_194429.2:c.804dup NP_919410.1:p.Ser271LysfsTer16
NM_007045.4:c.864dup MANE Select NP_008976.1:p.Ser291LysfsTer16
NM_194429.3:c.804dup NP_919410.1:p.Ser271LysfsTer16
NM_001278690.2:c.723dup NP_001265619.1:p.Ser244LysfsTer16