Canonical Allele Identifier: CA1680191342
Gene: CEP43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024543_167024545delinsCAG , CM000668.2:g.167024543_167024545delinsCAG GRCh38
NC_000006.11:g.167438031_167438033delinsCAG , CM000668.1:g.167438031_167438033delinsCAG GRCh37
NC_000006.10:g.167358021_167358023delinsCAG NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000349556.5:c.747-239_747-237delinsCAG ENSP00000230248.6:n.747-239_747-237delins...
ENST00000488525.2:c.803-239_803-237delinsCAG ENSP00000516042.1:n.803-239_803-237delins...
ENST00000609590.2:n.1682-242_1682-240delinsCAG
ENST00000704900.1:c.384-239_384-237delinsCAG ENSP00000516059.1:n.384-239_384-237delins...
ENST00000704901.1:c.*394-239_*394-237delinsCAG ENSP00000516060.1:n.*394-239_*394-237deli...
ENST00000704959.1:n.1072-239_1072-237delinsCAG
ENST00000704982.1:n.1517-239_1517-237delinsCAG
ENST00000704985.1:n.1913-239_1913-237delinsCAG
ENST00000704986.1:n.1913-239_1913-237delinsCAG
ENST00000705029.1:n.1399_1401delinsCAG
ENST00000705059.1:n.1462-239_1462-237delinsCAG
ENST00000705168.1:c.60-239_60-237delinsCAG ENSP00000516071.1:n.60-239_60-237delinsCA...
ENST00000705169.1:c.60-239_60-237delinsCAG ENSP00000516072.1:n.60-239_60-237delinsCA...
ENST00000705170.1:c.60-239_60-237delinsCAG ENSP00000516073.1:n.60-239_60-237delinsCA...
ENST00000705171.1:n.852-239_852-237delinsCAG
ENST00000705173.1:c.*116-239_*116-237delinsCAG ENSP00000516075.1:n.*116-239_*116-237deli...
ENST00000705175.1:c.933-239_933-237delinsCAG ENSP00000516077.1:n.933-239_933-237delins...
ENST00000705176.1:c.993-239_993-237delinsCAG ENSP00000516078.1:n.993-239_993-237delins...
ENST00000705177.1:c.*391-239_*391-237delinsCAG ENSP00000516079.1:n.*391-239_*391-237deli...
ENST00000705178.1:c.330-239_330-237delinsCAG ENSP00000516080.1:n.330-239_330-237delins...
ENST00000705179.1:c.525-239_525-237delinsCAG ENSP00000516081.1:n.525-239_525-237delins...
ENST00000705180.1:c.465-239_465-237delinsCAG ENSP00000516082.1:n.465-239_465-237delins...
ENST00000705235.1:c.807-239_807-237delinsCAG ENSP00000516093.1:n.807-239_807-237delins...
ENST00000705236.1:c.747-239_747-237delinsCAG ENSP00000516094.1:n.747-239_747-237delins...
ENST00000705237.1:c.465-239_465-237delinsCAG ENSP00000516095.1:n.465-239_465-237delins...
ENST00000705238.1:c.666-239_666-237delinsCAG ENSP00000516096.1:n.666-239_666-237delins...
ENST00000705239.1:c.747-242_747-240delinsCAG ENSP00000516097.1:n.747-242_747-240delins...
ENST00000705240.1:c.*416-239_*416-237delinsCAG ENSP00000516098.1:n.*416-239_*416-237deli...
ENST00000705241.1:c.743-239_743-237delinsCAG ENSP00000516099.1:n.743-239_743-237delins...
ENST00000705242.1:c.744-239_744-237delinsCAG ENSP00000516100.1:n.744-239_744-237delins...
ENST00000705249.1:c.747-239_747-237delinsCAG ENSP00000516101.1:n.747-239_747-237delins...
ENST00000705250.1:c.525-239_525-237delinsCAG ENSP00000516102.1:n.525-239_525-237delins...
ENST00000705251.1:c.*394-239_*394-237delinsCAG ENSP00000516103.1:n.*394-239_*394-237deli...
ENST00000705252.1:c.*217-239_*217-237delinsCAG ENSP00000516104.1:n.*217-239_*217-237deli...
ENST00000705253.1:c.*217-239_*217-237delinsCAG ENSP00000516105.1:n.*217-239_*217-237deli...
ENST00000705254.1:c.354-239_354-237delinsCAG ENSP00000516106.1:n.354-239_354-237delins...
ENST00000705255.1:n.1373-239_1373-237delinsCAG
ENST00000705256.1:c.807-242_807-240delinsCAG ENSP00000516107.1:n.807-242_807-240delins...
ENST00000366847.9:c.807-239_807-237delinsCAG MANE Select ENSP00000355812.3:n.807-239_807-237delins...
ENST00000349556.4:c.747-239_747-237delinsCAG ENSP00000230248.6:n.747-239_747-237delins...
ENST00000366847.8:c.807-239_807-237delinsCAG ENSP00000355812.3:n.807-239_807-237delins...
ENST00000496181.1:n.211-239_211-237delinsCAG
ENST00000622353.4:c.666-239_666-237delinsCAG ENSP00000479115.1:n.666-239_666-237delins...
NM_001278690.1:c.666-239_666-237delinsCAG NP_001265619.1:n.666-239_666-237delinsCAG...
NM_007045.3:c.807-239_807-237delinsCAG NP_008976.1:n.807-239_807-237delinsCAG
NM_194429.2:c.747-239_747-237delinsCAG NP_919410.1:n.747-239_747-237delinsCAG
NM_007045.4:c.807-239_807-237delinsCAG MANE Select NP_008976.1:n.807-239_807-237delinsCAG
NM_194429.3:c.747-239_747-237delinsCAG NP_919410.1:n.747-239_747-237delinsCAG
NM_001278690.2:c.666-239_666-237delinsCAG NP_001265619.1:n.666-239_666-237delinsCAG...