Canonical Allele Identifier: CA822255023
Gene: CEP43 HGNC NCBI

Linked Data

dbSNP Id: rs1399630775

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167024545_167024546del , CM000668.2:g.167024545_167024546del GRCh38
NC_000006.11:g.167438033_167438034del , CM000668.1:g.167438033_167438034del GRCh37
NC_000006.10:g.167358023_167358024del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000349556.5:c.747-237_747-236del ENSP00000230248.6:n.747-237_747-236del
ENST00000488525.2:c.803-237_803-236del ENSP00000516042.1:n.803-237_803-236del
ENST00000609590.2:n.1682-240_1682-239del
ENST00000704900.1:c.384-237_384-236del ENSP00000516059.1:n.384-237_384-236del
ENST00000704901.1:c.*394-237_*394-236del ENSP00000516060.1:n.*394-237_*394-236del
ENST00000704959.1:n.1072-237_1072-236del
ENST00000704982.1:n.1517-237_1517-236del
ENST00000704985.1:n.1913-237_1913-236del
ENST00000704986.1:n.1913-237_1913-236del
ENST00000705029.1:n.1401_1402del
ENST00000705059.1:n.1462-237_1462-236del
ENST00000705168.1:c.60-237_60-236del ENSP00000516071.1:n.60-237_60-236del
ENST00000705169.1:c.60-237_60-236del ENSP00000516072.1:n.60-237_60-236del
ENST00000705170.1:c.60-237_60-236del ENSP00000516073.1:n.60-237_60-236del
ENST00000705171.1:n.852-237_852-236del
ENST00000705173.1:c.*116-237_*116-236del ENSP00000516075.1:n.*116-237_*116-236del
ENST00000705175.1:c.933-237_933-236del ENSP00000516077.1:n.933-237_933-236del
ENST00000705176.1:c.993-237_993-236del ENSP00000516078.1:n.993-237_993-236del
ENST00000705177.1:c.*391-237_*391-236del ENSP00000516079.1:n.*391-237_*391-236del
ENST00000705178.1:c.330-237_330-236del ENSP00000516080.1:n.330-237_330-236del
ENST00000705179.1:c.525-237_525-236del ENSP00000516081.1:n.525-237_525-236del
ENST00000705180.1:c.465-237_465-236del ENSP00000516082.1:n.465-237_465-236del
ENST00000705235.1:c.807-237_807-236del ENSP00000516093.1:n.807-237_807-236del
ENST00000705236.1:c.747-237_747-236del ENSP00000516094.1:n.747-237_747-236del
ENST00000705237.1:c.465-237_465-236del ENSP00000516095.1:n.465-237_465-236del
ENST00000705238.1:c.666-237_666-236del ENSP00000516096.1:n.666-237_666-236del
ENST00000705239.1:c.747-240_747-239del ENSP00000516097.1:n.747-240_747-239del
ENST00000705240.1:c.*416-237_*416-236del ENSP00000516098.1:n.*416-237_*416-236del
ENST00000705241.1:c.743-237_743-236del ENSP00000516099.1:n.743-237_743-236del
ENST00000705242.1:c.744-237_744-236del ENSP00000516100.1:n.744-237_744-236del
ENST00000705249.1:c.747-237_747-236del ENSP00000516101.1:n.747-237_747-236del
ENST00000705250.1:c.525-237_525-236del ENSP00000516102.1:n.525-237_525-236del
ENST00000705251.1:c.*394-237_*394-236del ENSP00000516103.1:n.*394-237_*394-236del
ENST00000705252.1:c.*217-237_*217-236del ENSP00000516104.1:n.*217-237_*217-236del
ENST00000705253.1:c.*217-237_*217-236del ENSP00000516105.1:n.*217-237_*217-236del
ENST00000705254.1:c.354-237_354-236del ENSP00000516106.1:n.354-237_354-236del
ENST00000705255.1:n.1373-237_1373-236del
ENST00000705256.1:c.807-240_807-239del ENSP00000516107.1:n.807-240_807-239del
ENST00000366847.9:c.807-237_807-236del MANE Select ENSP00000355812.3:n.807-237_807-236del
ENST00000349556.4:c.747-237_747-236del ENSP00000230248.6:n.747-237_747-236del
ENST00000366847.8:c.807-237_807-236del ENSP00000355812.3:n.807-237_807-236del
ENST00000496181.1:n.211-237_211-236del
ENST00000622353.4:c.666-237_666-236del ENSP00000479115.1:n.666-237_666-236del
NM_001278690.1:c.666-237_666-236del NP_001265619.1:n.666-237_666-236del
NM_007045.3:c.807-237_807-236del NP_008976.1:n.807-237_807-236del
NM_194429.2:c.747-237_747-236del NP_919410.1:n.747-237_747-236del
NM_007045.4:c.807-237_807-236del MANE Select NP_008976.1:n.807-237_807-236del
NM_194429.3:c.747-237_747-236del NP_919410.1:n.747-237_747-236del
NM_001278690.2:c.666-237_666-236del NP_001265619.1:n.666-237_666-236del