Canonical Allele Identifier: CA2681188455

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024823-TCTCGGATGCACCCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024826_167024840del , CM000668.2:g.167024826_167024840del	GRCh38
NC_000006.11:g.167438314_167438328del , CM000668.1:g.167438314_167438328del	GRCh37
NC_000006.10:g.167358304_167358318del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.791_805del	ENSP00000230248.6:p.Ser264_Pro268del
ENST00000488525.2:c.847_861del	ENSP00000516042.1:p.Arg283_Pro287del
ENST00000609590.2:n.1723_1737del
ENST00000704900.1:c.428_442del	ENSP00000516059.1:p.Ser143_Pro147del
ENST00000704901.1:c.*438_*452del	ENSP00000516060.1:n.*438_*452del
ENST00000704959.1:n.1116_1130del
ENST00000704982.1:n.1561_1575del
ENST00000704985.1:n.1957_1971del
ENST00000704986.1:n.1957_1971del
ENST00000705029.1:n.1682_1696del
ENST00000705059.1:n.1506_1520del
ENST00000705168.1:c.104_118del	ENSP00000516071.1:p.Ser35_Pro39del
ENST00000705169.1:c.104_118del	ENSP00000516072.1:p.Ser35_Pro39del
ENST00000705170.1:c.104_118del	ENSP00000516073.1:p.Ser35_Pro39del
ENST00000705171.1:n.896_910del
ENST00000705173.1:c.*160_*174del	ENSP00000516075.1:n.*160_*174del
ENST00000705175.1:c.977_991del	ENSP00000516077.1:p.Ser326_Pro330del
ENST00000705176.1:c.1037_1051del	ENSP00000516078.1:p.Ser346_Pro350del
ENST00000705177.1:c.*435_*449del	ENSP00000516079.1:n.*435_*449del
ENST00000705178.1:c.374_388del	ENSP00000516080.1:p.Ser125_Pro129del
ENST00000705179.1:c.569_583del	ENSP00000516081.1:p.Ser190_Pro194del
ENST00000705180.1:c.509_523del	ENSP00000516082.1:p.Ser170_Pro174del
ENST00000705235.1:c.851_865del	ENSP00000516093.1:p.Ser284_Pro288del
ENST00000705236.1:c.791_805del	ENSP00000516094.1:p.Ser264_Pro268del
ENST00000705237.1:c.509_523del	ENSP00000516095.1:p.Ser170_Pro174del
ENST00000705238.1:c.710_724del	ENSP00000516096.1:p.Ser237_Pro241del
ENST00000705239.1:c.788_802del	ENSP00000516097.1:p.Ser263_Pro267del
ENST00000705240.1:c.*460_*474del	ENSP00000516098.1:n.*460_*474del
ENST00000705241.1:c.787_801del	ENSP00000516099.1:p.Arg263_Pro267del
ENST00000705242.1:c.788_802del	ENSP00000516100.1:p.Ser263_Pro267del
ENST00000705249.1:c.791_805del	ENSP00000516101.1:p.Ser264_Pro268del
ENST00000705250.1:c.569_583del	ENSP00000516102.1:p.Ser190_Pro194del
ENST00000705251.1:c.*438_*452del	ENSP00000516103.1:n.*438_*452del
ENST00000705252.1:c.*261_*275del	ENSP00000516104.1:n.*261_*275del
ENST00000705253.1:c.*261_*275del	ENSP00000516105.1:n.*261_*275del
ENST00000705254.1:c.398_412del	ENSP00000516106.1:p.Ser133_Pro137del
ENST00000705255.1:n.1417_1431del
ENST00000705256.1:c.848_862del	ENSP00000516107.1:p.Ser283_Pro287del
ENST00000366847.9:c.851_865del MANE Select	ENSP00000355812.3:p.Ser284_Pro288del
ENST00000349556.4:c.791_805del	ENSP00000230248.6:p.Ser264_Pro268del
ENST00000366847.8:c.851_865del	ENSP00000355812.3:p.Ser284_Pro288del
ENST00000488525.1:n.37_51del
ENST00000496181.1:n.255_269del
ENST00000622353.4:c.710_724del	ENSP00000479115.1:p.Ser237_Pro241del
NM_001278690.1:c.710_724del	NP_001265619.1:p.Ser237_Pro241del
NM_007045.3:c.851_865del	NP_008976.1:p.Ser284_Pro288del
NM_194429.2:c.791_805del	NP_919410.1:p.Ser264_Pro268del
NM_007045.4:c.851_865del MANE Select	NP_008976.1:p.Ser284_Pro288del
NM_194429.3:c.791_805del	NP_919410.1:p.Ser264_Pro268del
NM_001278690.2:c.710_724del	NP_001265619.1:p.Ser237_Pro241del