Canonical Allele Identifier: CA1680191933
Gene: CEP43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024825_167024826delinsTC , CM000668.2:g.167024825_167024826delinsTC GRCh38
NC_000006.11:g.167438313_167438314delinsTC , CM000668.1:g.167438313_167438314delinsTC GRCh37
NC_000006.10:g.167358303_167358304delinsTC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000349556.5:c.790_791delinsTC ENSP00000230248.6:p.Ser264=
ENST00000488525.2:c.846_847delinsTC ENSP00000516042.1:p.Ser282=
ENST00000609590.2:n.1722_1723delinsTC
ENST00000704900.1:c.427_428delinsTC ENSP00000516059.1:p.Ser143=
ENST00000704901.1:c.*437_*438delinsTC ENSP00000516060.1:n.*437_*438delinsTC
ENST00000704959.1:n.1115_1116delinsTC
ENST00000704982.1:n.1560_1561delinsTC
ENST00000704985.1:n.1956_1957delinsTC
ENST00000704986.1:n.1956_1957delinsTC
ENST00000705029.1:n.1681_1682delinsTC
ENST00000705059.1:n.1505_1506delinsTC
ENST00000705168.1:c.103_104delinsTC ENSP00000516071.1:p.Ser35=
ENST00000705169.1:c.103_104delinsTC ENSP00000516072.1:p.Ser35=
ENST00000705170.1:c.103_104delinsTC ENSP00000516073.1:p.Ser35=
ENST00000705171.1:n.895_896delinsTC
ENST00000705173.1:c.*159_*160delinsTC ENSP00000516075.1:n.*159_*160delinsTC
ENST00000705175.1:c.976_977delinsTC ENSP00000516077.1:p.Ser326=
ENST00000705176.1:c.1036_1037delinsTC ENSP00000516078.1:p.Ser346=
ENST00000705177.1:c.*434_*435delinsTC ENSP00000516079.1:n.*434_*435delinsTC
ENST00000705178.1:c.373_374delinsTC ENSP00000516080.1:p.Ser125=
ENST00000705179.1:c.568_569delinsTC ENSP00000516081.1:p.Ser190=
ENST00000705180.1:c.508_509delinsTC ENSP00000516082.1:p.Ser170=
ENST00000705235.1:c.850_851delinsTC ENSP00000516093.1:p.Ser284=
ENST00000705236.1:c.790_791delinsTC ENSP00000516094.1:p.Ser264=
ENST00000705237.1:c.508_509delinsTC ENSP00000516095.1:p.Ser170=
ENST00000705238.1:c.709_710delinsTC ENSP00000516096.1:p.Ser237=
ENST00000705239.1:c.787_788delinsTC ENSP00000516097.1:p.Ser263=
ENST00000705240.1:c.*459_*460delinsTC ENSP00000516098.1:n.*459_*460delinsTC
ENST00000705241.1:c.786_787delinsTC ENSP00000516099.1:p.Ser262=
ENST00000705242.1:c.787_788delinsTC ENSP00000516100.1:p.Ser263=
ENST00000705249.1:c.790_791delinsTC ENSP00000516101.1:p.Ser264=
ENST00000705250.1:c.568_569delinsTC ENSP00000516102.1:p.Ser190=
ENST00000705251.1:c.*437_*438delinsTC ENSP00000516103.1:n.*437_*438delinsTC
ENST00000705252.1:c.*260_*261delinsTC ENSP00000516104.1:n.*260_*261delinsTC
ENST00000705253.1:c.*260_*261delinsTC ENSP00000516105.1:n.*260_*261delinsTC
ENST00000705254.1:c.397_398delinsTC ENSP00000516106.1:p.Ser133=
ENST00000705255.1:n.1416_1417delinsTC
ENST00000705256.1:c.847_848delinsTC ENSP00000516107.1:p.Ser283=
ENST00000366847.9:c.850_851delinsTC MANE Select ENSP00000355812.3:p.Ser284=
ENST00000349556.4:c.790_791delinsTC ENSP00000230248.6:p.Ser264=
ENST00000366847.8:c.850_851delinsTC ENSP00000355812.3:p.Ser284=
ENST00000488525.1:n.36_37delinsTC
ENST00000496181.1:n.254_255delinsTC
ENST00000622353.4:c.709_710delinsTC ENSP00000479115.1:p.Ser237=
NM_001278690.1:c.709_710delinsTC NP_001265619.1:p.Ser237=
NM_007045.3:c.850_851delinsTC NP_008976.1:p.Ser284=
NM_194429.2:c.790_791delinsTC NP_919410.1:p.Ser264=
NM_007045.4:c.850_851delinsTC MANE Select NP_008976.1:p.Ser284=
NM_194429.3:c.790_791delinsTC NP_919410.1:p.Ser264=
NM_001278690.2:c.709_710delinsTC NP_001265619.1:p.Ser237=