Canonical Allele Identifier: CA2681188349

Gene: CEP43

Linked Data

• gnomAD v4: 6-167024662-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024663_167024664del , CM000668.2:g.167024663_167024664del	GRCh38
NC_000006.11:g.167438151_167438152del , CM000668.1:g.167438151_167438152del	GRCh37
NC_000006.10:g.167358141_167358142del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.747-119_747-118del	ENSP00000230248.6:n.747-119_747-118del
ENST00000488525.2:c.803-119_803-118del	ENSP00000516042.1:n.803-119_803-118del
ENST00000609590.2:n.1682-122_1682-121del
ENST00000704900.1:c.384-119_384-118del	ENSP00000516059.1:n.384-119_384-118del
ENST00000704901.1:c.*394-119_*394-118del	ENSP00000516060.1:n.*394-119_*394-118del
ENST00000704959.1:n.1072-119_1072-118del
ENST00000704982.1:n.1517-119_1517-118del
ENST00000704985.1:n.1913-119_1913-118del
ENST00000704986.1:n.1913-119_1913-118del
ENST00000705029.1:n.1519_1520del
ENST00000705059.1:n.1462-119_1462-118del
ENST00000705168.1:c.60-119_60-118del	ENSP00000516071.1:n.60-119_60-118del
ENST00000705169.1:c.60-119_60-118del	ENSP00000516072.1:n.60-119_60-118del
ENST00000705170.1:c.60-119_60-118del	ENSP00000516073.1:n.60-119_60-118del
ENST00000705171.1:n.852-119_852-118del
ENST00000705173.1:c.*116-119_*116-118del	ENSP00000516075.1:n.*116-119_*116-118del
ENST00000705175.1:c.933-119_933-118del	ENSP00000516077.1:n.933-119_933-118del
ENST00000705176.1:c.993-119_993-118del	ENSP00000516078.1:n.993-119_993-118del
ENST00000705177.1:c.*391-119_*391-118del	ENSP00000516079.1:n.*391-119_*391-118del
ENST00000705178.1:c.330-119_330-118del	ENSP00000516080.1:n.330-119_330-118del
ENST00000705179.1:c.525-119_525-118del	ENSP00000516081.1:n.525-119_525-118del
ENST00000705180.1:c.465-119_465-118del	ENSP00000516082.1:n.465-119_465-118del
ENST00000705235.1:c.807-119_807-118del	ENSP00000516093.1:n.807-119_807-118del
ENST00000705236.1:c.747-119_747-118del	ENSP00000516094.1:n.747-119_747-118del
ENST00000705237.1:c.465-119_465-118del	ENSP00000516095.1:n.465-119_465-118del
ENST00000705238.1:c.666-119_666-118del	ENSP00000516096.1:n.666-119_666-118del
ENST00000705239.1:c.747-122_747-121del	ENSP00000516097.1:n.747-122_747-121del
ENST00000705240.1:c.*416-119_*416-118del	ENSP00000516098.1:n.*416-119_*416-118del
ENST00000705241.1:c.743-119_743-118del	ENSP00000516099.1:n.743-119_743-118del
ENST00000705242.1:c.744-119_744-118del	ENSP00000516100.1:n.744-119_744-118del
ENST00000705249.1:c.747-119_747-118del	ENSP00000516101.1:n.747-119_747-118del
ENST00000705250.1:c.525-119_525-118del	ENSP00000516102.1:n.525-119_525-118del
ENST00000705251.1:c.*394-119_*394-118del	ENSP00000516103.1:n.*394-119_*394-118del
ENST00000705252.1:c.*217-119_*217-118del	ENSP00000516104.1:n.*217-119_*217-118del
ENST00000705253.1:c.*217-119_*217-118del	ENSP00000516105.1:n.*217-119_*217-118del
ENST00000705254.1:c.354-119_354-118del	ENSP00000516106.1:n.354-119_354-118del
ENST00000705255.1:n.1373-119_1373-118del
ENST00000705256.1:c.807-122_807-121del	ENSP00000516107.1:n.807-122_807-121del
ENST00000366847.9:c.807-119_807-118del MANE Select	ENSP00000355812.3:n.807-119_807-118del
ENST00000349556.4:c.747-119_747-118del	ENSP00000230248.6:n.747-119_747-118del
ENST00000366847.8:c.807-119_807-118del	ENSP00000355812.3:n.807-119_807-118del
ENST00000496181.1:n.211-119_211-118del
ENST00000622353.4:c.666-119_666-118del	ENSP00000479115.1:n.666-119_666-118del
NM_001278690.1:c.666-119_666-118del	NP_001265619.1:n.666-119_666-118del
NM_007045.3:c.807-119_807-118del	NP_008976.1:n.807-119_807-118del
NM_194429.2:c.747-119_747-118del	NP_919410.1:n.747-119_747-118del
NM_007045.4:c.807-119_807-118del MANE Select	NP_008976.1:n.807-119_807-118del
NM_194429.3:c.747-119_747-118del	NP_919410.1:n.747-119_747-118del
NM_001278690.2:c.666-119_666-118del	NP_001265619.1:n.666-119_666-118del