Canonical Allele Identifier: CA2681188463

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024877-CTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024878_167024880del , CM000668.2:g.167024878_167024880del	GRCh38
NC_000006.11:g.167438366_167438368del , CM000668.1:g.167438366_167438368del	GRCh37
NC_000006.10:g.167358356_167358358del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.843_845del	ENSP00000230248.6:p.Leu282del
ENST00000488525.2:c.*35_*37del	ENSP00000516042.1:n.*35_*37del
ENST00000609590.2:n.1775_1777del
ENST00000704900.1:c.480_482del	ENSP00000516059.1:p.Leu161del
ENST00000704901.1:c.*490_*492del	ENSP00000516060.1:n.*490_*492del
ENST00000704959.1:n.1168_1170del
ENST00000704982.1:n.1613_1615del
ENST00000704985.1:n.2009_2011del
ENST00000704986.1:n.2009_2011del
ENST00000705029.1:n.1734_1736del
ENST00000705059.1:n.1558_1560del
ENST00000705168.1:c.156_158del	ENSP00000516071.1:p.Leu53del
ENST00000705169.1:c.156_158del	ENSP00000516072.1:p.Leu53del
ENST00000705170.1:c.156_158del	ENSP00000516073.1:p.Leu53del
ENST00000705171.1:n.948_950del
ENST00000705173.1:c.*212_*214del	ENSP00000516075.1:n.*212_*214del
ENST00000705175.1:c.1029_1031del	ENSP00000516077.1:p.Leu344del
ENST00000705176.1:c.1089_1091del	ENSP00000516078.1:p.Leu364del
ENST00000705177.1:c.*487_*489del	ENSP00000516079.1:n.*487_*489del
ENST00000705178.1:c.426_428del	ENSP00000516080.1:p.Leu143del
ENST00000705179.1:c.621_623del	ENSP00000516081.1:p.Leu208del
ENST00000705180.1:c.561_563del	ENSP00000516082.1:p.Leu188del
ENST00000705235.1:c.903_905del	ENSP00000516093.1:p.Leu302del
ENST00000705236.1:c.843_845del	ENSP00000516094.1:p.Leu282del
ENST00000705237.1:c.561_563del	ENSP00000516095.1:p.Leu188del
ENST00000705238.1:c.762_764del	ENSP00000516096.1:p.Leu255del
ENST00000705239.1:c.840_842del	ENSP00000516097.1:p.Leu281del
ENST00000705240.1:c.*512_*514del	ENSP00000516098.1:n.*512_*514del
ENST00000705241.1:c.*35_*37del	ENSP00000516099.1:n.*35_*37del
ENST00000705242.1:c.840_842del	ENSP00000516100.1:p.Leu281del
ENST00000705249.1:c.843_845del	ENSP00000516101.1:p.Leu282del
ENST00000705250.1:c.621_623del	ENSP00000516102.1:p.Leu208del
ENST00000705251.1:c.*490_*492del	ENSP00000516103.1:n.*490_*492del
ENST00000705252.1:c.*313_*315del	ENSP00000516104.1:n.*313_*315del
ENST00000705253.1:c.*313_*315del	ENSP00000516105.1:n.*313_*315del
ENST00000705254.1:c.450_452del	ENSP00000516106.1:p.Leu151del
ENST00000705255.1:n.1469_1471del
ENST00000705256.1:c.900_902del	ENSP00000516107.1:p.Leu301del
ENST00000366847.9:c.903_905del MANE Select	ENSP00000355812.3:p.Leu302del
ENST00000349556.4:c.843_845del	ENSP00000230248.6:p.Leu282del
ENST00000366847.8:c.903_905del	ENSP00000355812.3:p.Leu302del
ENST00000488525.1:n.89_91del
ENST00000496181.1:n.307_309del
ENST00000622353.4:c.762_764del	ENSP00000479115.1:p.Leu255del
NM_001278690.1:c.762_764del	NP_001265619.1:p.Leu255del
NM_007045.3:c.903_905del	NP_008976.1:p.Leu302del
NM_194429.2:c.843_845del	NP_919410.1:p.Leu282del
NM_007045.4:c.903_905del MANE Select	NP_008976.1:p.Leu302del
NM_194429.3:c.843_845del	NP_919410.1:p.Leu282del
NM_001278690.2:c.762_764del	NP_001265619.1:p.Leu255del