Canonical Allele Identifier: CA1097048252
Gene: CEP43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024508_167024509insAAAAAAAAA , CM000668.2:g.167024508_167024509insAAAAAAAAA GRCh38
NC_000006.11:g.167437996_167437997insAAAAAAAAA , CM000668.1:g.167437996_167437997insAAAAAAAAA GRCh37
NC_000006.10:g.167357986_167357987insAAAAAAAAA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000349556.5:c.747-274_747-273insAAAAAAAAA ENSP00000230248.6:n.747-274_747-273insAAA...
ENST00000488525.2:c.803-274_803-273insAAAAAAAAA ENSP00000516042.1:n.803-274_803-273insAAA...
ENST00000609590.2:n.1682-277_1682-276insAAAAAAAAA
ENST00000704900.1:c.384-274_384-273insAAAAAAAAA ENSP00000516059.1:n.384-274_384-273insAAA...
ENST00000704901.1:c.*394-274_*394-273insAAAAAAAAA ENSP00000516060.1:n.*394-274_*394-273insA...
ENST00000704959.1:n.1072-274_1072-273insAAAAAAAAA
ENST00000704982.1:n.1517-274_1517-273insAAAAAAAAA
ENST00000704985.1:n.1913-274_1913-273insAAAAAAAAA
ENST00000704986.1:n.1913-274_1913-273insAAAAAAAAA
ENST00000705029.1:n.1364_1365insAAAAAAAAA
ENST00000705059.1:n.1462-274_1462-273insAAAAAAAAA
ENST00000705168.1:c.60-274_60-273insAAAAAAAAA ENSP00000516071.1:n.60-274_60-273insAAAAA...
ENST00000705169.1:c.60-274_60-273insAAAAAAAAA ENSP00000516072.1:n.60-274_60-273insAAAAA...
ENST00000705170.1:c.60-274_60-273insAAAAAAAAA ENSP00000516073.1:n.60-274_60-273insAAAAA...
ENST00000705171.1:n.852-274_852-273insAAAAAAAAA
ENST00000705173.1:c.*116-274_*116-273insAAAAAAAAA ENSP00000516075.1:n.*116-274_*116-273insA...
ENST00000705175.1:c.933-274_933-273insAAAAAAAAA ENSP00000516077.1:n.933-274_933-273insAAA...
ENST00000705176.1:c.993-274_993-273insAAAAAAAAA ENSP00000516078.1:n.993-274_993-273insAAA...
ENST00000705177.1:c.*391-274_*391-273insAAAAAAAAA ENSP00000516079.1:n.*391-274_*391-273insA...
ENST00000705178.1:c.330-274_330-273insAAAAAAAAA ENSP00000516080.1:n.330-274_330-273insAAA...
ENST00000705179.1:c.525-274_525-273insAAAAAAAAA ENSP00000516081.1:n.525-274_525-273insAAA...
ENST00000705180.1:c.465-274_465-273insAAAAAAAAA ENSP00000516082.1:n.465-274_465-273insAAA...
ENST00000705235.1:c.807-274_807-273insAAAAAAAAA ENSP00000516093.1:n.807-274_807-273insAAA...
ENST00000705236.1:c.747-274_747-273insAAAAAAAAA ENSP00000516094.1:n.747-274_747-273insAAA...
ENST00000705237.1:c.465-274_465-273insAAAAAAAAA ENSP00000516095.1:n.465-274_465-273insAAA...
ENST00000705238.1:c.666-274_666-273insAAAAAAAAA ENSP00000516096.1:n.666-274_666-273insAAA...
ENST00000705239.1:c.747-277_747-276insAAAAAAAAA ENSP00000516097.1:n.747-277_747-276insAAA...
ENST00000705240.1:c.*416-274_*416-273insAAAAAAAAA ENSP00000516098.1:n.*416-274_*416-273insA...
ENST00000705241.1:c.743-274_743-273insAAAAAAAAA ENSP00000516099.1:n.743-274_743-273insAAA...
ENST00000705242.1:c.744-274_744-273insAAAAAAAAA ENSP00000516100.1:n.744-274_744-273insAAA...
ENST00000705249.1:c.747-274_747-273insAAAAAAAAA ENSP00000516101.1:n.747-274_747-273insAAA...
ENST00000705250.1:c.525-274_525-273insAAAAAAAAA ENSP00000516102.1:n.525-274_525-273insAAA...
ENST00000705251.1:c.*394-274_*394-273insAAAAAAAAA ENSP00000516103.1:n.*394-274_*394-273insA...
ENST00000705252.1:c.*217-274_*217-273insAAAAAAAAA ENSP00000516104.1:n.*217-274_*217-273insA...
ENST00000705253.1:c.*217-274_*217-273insAAAAAAAAA ENSP00000516105.1:n.*217-274_*217-273insA...
ENST00000705254.1:c.354-274_354-273insAAAAAAAAA ENSP00000516106.1:n.354-274_354-273insAAA...
ENST00000705255.1:n.1373-274_1373-273insAAAAAAAAA
ENST00000705256.1:c.807-277_807-276insAAAAAAAAA ENSP00000516107.1:n.807-277_807-276insAAA...
ENST00000366847.9:c.807-274_807-273insAAAAAAAAA MANE Select ENSP00000355812.3:n.807-274_807-273insAAA...
ENST00000349556.4:c.747-274_747-273insAAAAAAAAA ENSP00000230248.6:n.747-274_747-273insAAA...
ENST00000366847.8:c.807-274_807-273insAAAAAAAAA ENSP00000355812.3:n.807-274_807-273insAAA...
ENST00000496181.1:n.211-274_211-273insAAAAAAAAA
ENST00000622353.4:c.666-274_666-273insAAAAAAAAA ENSP00000479115.1:n.666-274_666-273insAAA...
NM_001278690.1:c.666-274_666-273insAAAAAAAAA NP_001265619.1:n.666-274_666-273insAAAAAA...
NM_007045.3:c.807-274_807-273insAAAAAAAAA NP_008976.1:n.807-274_807-273insAAAAAAAAA...
NM_194429.2:c.747-274_747-273insAAAAAAAAA NP_919410.1:n.747-274_747-273insAAAAAAAAA...
NM_007045.4:c.807-274_807-273insAAAAAAAAA MANE Select NP_008976.1:n.807-274_807-273insAAAAAAAAA...
NM_194429.3:c.747-274_747-273insAAAAAAAAA NP_919410.1:n.747-274_747-273insAAAAAAAAA...
NM_001278690.2:c.666-274_666-273insAAAAAAAAA NP_001265619.1:n.666-274_666-273insAAAAAA...