Canonical Allele Identifier: CA1680191954
Gene: CEP43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024833_167024834delinsAC , CM000668.2:g.167024833_167024834delinsAC GRCh38
NC_000006.11:g.167438321_167438322delinsAC , CM000668.1:g.167438321_167438322delinsAC GRCh37
NC_000006.10:g.167358311_167358312delinsAC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000349556.5:c.798_799delinsAC ENSP00000230248.6:p.Ala266=
ENST00000488525.2:c.854_855delinsAC ENSP00000516042.1:p.His285=
ENST00000609590.2:n.1730_1731delinsAC
ENST00000704900.1:c.435_436delinsAC ENSP00000516059.1:p.Ala145=
ENST00000704901.1:c.*445_*446delinsAC ENSP00000516060.1:n.*445_*446delinsAC
ENST00000704959.1:n.1123_1124delinsAC
ENST00000704982.1:n.1568_1569delinsAC
ENST00000704985.1:n.1964_1965delinsAC
ENST00000704986.1:n.1964_1965delinsAC
ENST00000705029.1:n.1689_1690delinsAC
ENST00000705059.1:n.1513_1514delinsAC
ENST00000705168.1:c.111_112delinsAC ENSP00000516071.1:p.Ala37=
ENST00000705169.1:c.111_112delinsAC ENSP00000516072.1:p.Ala37=
ENST00000705170.1:c.111_112delinsAC ENSP00000516073.1:p.Ala37=
ENST00000705171.1:n.903_904delinsAC
ENST00000705173.1:c.*167_*168delinsAC ENSP00000516075.1:n.*167_*168delinsAC
ENST00000705175.1:c.984_985delinsAC ENSP00000516077.1:p.Ala328=
ENST00000705176.1:c.1044_1045delinsAC ENSP00000516078.1:p.Ala348=
ENST00000705177.1:c.*442_*443delinsAC ENSP00000516079.1:n.*442_*443delinsAC
ENST00000705178.1:c.381_382delinsAC ENSP00000516080.1:p.Ala127=
ENST00000705179.1:c.576_577delinsAC ENSP00000516081.1:p.Ala192=
ENST00000705180.1:c.516_517delinsAC ENSP00000516082.1:p.Ala172=
ENST00000705235.1:c.858_859delinsAC ENSP00000516093.1:p.Ala286=
ENST00000705236.1:c.798_799delinsAC ENSP00000516094.1:p.Ala266=
ENST00000705237.1:c.516_517delinsAC ENSP00000516095.1:p.Ala172=
ENST00000705238.1:c.717_718delinsAC ENSP00000516096.1:p.Ala239=
ENST00000705239.1:c.795_796delinsAC ENSP00000516097.1:p.Ala265=
ENST00000705240.1:c.*467_*468delinsAC ENSP00000516098.1:n.*467_*468delinsAC
ENST00000705241.1:c.794_795delinsAC ENSP00000516099.1:p.His265=
ENST00000705242.1:c.795_796delinsAC ENSP00000516100.1:p.Ala265=
ENST00000705249.1:c.798_799delinsAC ENSP00000516101.1:p.Ala266=
ENST00000705250.1:c.576_577delinsAC ENSP00000516102.1:p.Ala192=
ENST00000705251.1:c.*445_*446delinsAC ENSP00000516103.1:n.*445_*446delinsAC
ENST00000705252.1:c.*268_*269delinsAC ENSP00000516104.1:n.*268_*269delinsAC
ENST00000705253.1:c.*268_*269delinsAC ENSP00000516105.1:n.*268_*269delinsAC
ENST00000705254.1:c.405_406delinsAC ENSP00000516106.1:p.Ala135=
ENST00000705255.1:n.1424_1425delinsAC
ENST00000705256.1:c.855_856delinsAC ENSP00000516107.1:p.Ala285=
ENST00000366847.9:c.858_859delinsAC MANE Select ENSP00000355812.3:p.Ala286=
ENST00000349556.4:c.798_799delinsAC ENSP00000230248.6:p.Ala266=
ENST00000366847.8:c.858_859delinsAC ENSP00000355812.3:p.Ala286=
ENST00000488525.1:n.44_45delinsAC
ENST00000496181.1:n.262_263delinsAC
ENST00000622353.4:c.717_718delinsAC ENSP00000479115.1:p.Ala239=
NM_001278690.1:c.717_718delinsAC NP_001265619.1:p.Ala239=
NM_007045.3:c.858_859delinsAC NP_008976.1:p.Ala286=
NM_194429.2:c.798_799delinsAC NP_919410.1:p.Ala266=
NM_007045.4:c.858_859delinsAC MANE Select NP_008976.1:p.Ala286=
NM_194429.3:c.798_799delinsAC NP_919410.1:p.Ala266=
NM_001278690.2:c.717_718delinsAC NP_001265619.1:p.Ala239=