Canonical Allele Identifier: CA2606067127
Gene: CEP43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024877_167024879del , CM000668.2:g.167024877_167024879del GRCh38
NC_000006.11:g.167438365_167438367del , CM000668.1:g.167438365_167438367del GRCh37
NC_000006.10:g.167358355_167358357del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000349556.5:c.842_844del ENSP00000230248.6:p.Ser281del
ENST00000488525.2:c.*34_*36del ENSP00000516042.1:n.*34_*36del
ENST00000609590.2:n.1774_1776del
ENST00000704900.1:c.479_481del ENSP00000516059.1:p.Ser160del
ENST00000704901.1:c.*489_*491del ENSP00000516060.1:n.*489_*491del
ENST00000704959.1:n.1167_1169del
ENST00000704982.1:n.1612_1614del
ENST00000704985.1:n.2008_2010del
ENST00000704986.1:n.2008_2010del
ENST00000705029.1:n.1733_1735del
ENST00000705059.1:n.1557_1559del
ENST00000705168.1:c.155_157del ENSP00000516071.1:p.Ser52del
ENST00000705169.1:c.155_157del ENSP00000516072.1:p.Ser52del
ENST00000705170.1:c.155_157del ENSP00000516073.1:p.Ser52del
ENST00000705171.1:n.947_949del
ENST00000705173.1:c.*211_*213del ENSP00000516075.1:n.*211_*213del
ENST00000705175.1:c.1028_1030del ENSP00000516077.1:p.Ser343del
ENST00000705176.1:c.1088_1090del ENSP00000516078.1:p.Ser363del
ENST00000705177.1:c.*486_*488del ENSP00000516079.1:n.*486_*488del
ENST00000705178.1:c.425_427del ENSP00000516080.1:p.Ser142del
ENST00000705179.1:c.620_622del ENSP00000516081.1:p.Ser207del
ENST00000705180.1:c.560_562del ENSP00000516082.1:p.Ser187del
ENST00000705235.1:c.902_904del ENSP00000516093.1:p.Ser301del
ENST00000705236.1:c.842_844del ENSP00000516094.1:p.Ser281del
ENST00000705237.1:c.560_562del ENSP00000516095.1:p.Ser187del
ENST00000705238.1:c.761_763del ENSP00000516096.1:p.Ser254del
ENST00000705239.1:c.839_841del ENSP00000516097.1:p.Ser280del
ENST00000705240.1:c.*511_*513del ENSP00000516098.1:n.*511_*513del
ENST00000705241.1:c.*34_*36del ENSP00000516099.1:n.*34_*36del
ENST00000705242.1:c.839_841del ENSP00000516100.1:p.Ser280del
ENST00000705249.1:c.842_844del ENSP00000516101.1:p.Ser281del
ENST00000705250.1:c.620_622del ENSP00000516102.1:p.Ser207del
ENST00000705251.1:c.*489_*491del ENSP00000516103.1:n.*489_*491del
ENST00000705252.1:c.*312_*314del ENSP00000516104.1:n.*312_*314del
ENST00000705253.1:c.*312_*314del ENSP00000516105.1:n.*312_*314del
ENST00000705254.1:c.449_451del ENSP00000516106.1:p.Ser150del
ENST00000705255.1:n.1468_1470del
ENST00000705256.1:c.899_901del ENSP00000516107.1:p.Ser300del
ENST00000366847.9:c.902_904del MANE Select ENSP00000355812.3:p.Ser301del
ENST00000349556.4:c.842_844del ENSP00000230248.6:p.Ser281del
ENST00000366847.8:c.902_904del ENSP00000355812.3:p.Ser301del
ENST00000488525.1:n.88_90del
ENST00000496181.1:n.306_308del
ENST00000622353.4:c.761_763del ENSP00000479115.1:p.Ser254del
NM_001278690.1:c.761_763del NP_001265619.1:p.Ser254del
NM_007045.3:c.902_904del NP_008976.1:p.Ser301del
NM_194429.2:c.842_844del NP_919410.1:p.Ser281del
NM_007045.4:c.902_904del MANE Select NP_008976.1:p.Ser301del
NM_194429.3:c.842_844del NP_919410.1:p.Ser281del
NM_001278690.2:c.761_763del NP_001265619.1:p.Ser254del