Canonical Allele Identifier: CA453081424

Gene: CEP43

Linked Data

• dbSNP Id: rs1197183591
• gnomAD v2: 6-167438313-TC-T
• gnomAD v4: 6-167024825-TC-T
• MyVariant Identifiers: chr6:g.167438314del (hg19) ; chr6:g.167024826del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024826del , CM000668.2:g.167024826del	GRCh38
NC_000006.11:g.167438314del , CM000668.1:g.167438314del	GRCh37
NC_000006.10:g.167358304del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.791del	ENSP00000230248.6:p.Ser264TrpfsTer6
ENST00000488525.2:c.847del	ENSP00000516042.1:p.Arg283GlyfsTer22
ENST00000609590.2:n.1723del
ENST00000704900.1:c.428del	ENSP00000516059.1:p.Ser143TrpfsTer6
ENST00000704901.1:c.*438del	ENSP00000516060.1:n.*438del
ENST00000704959.1:n.1116del
ENST00000704982.1:n.1561del
ENST00000704985.1:n.1957del
ENST00000704986.1:n.1957del
ENST00000705029.1:n.1682del
ENST00000705059.1:n.1506del
ENST00000705168.1:c.104del	ENSP00000516071.1:p.Ser35TrpfsTer6
ENST00000705169.1:c.104del	ENSP00000516072.1:p.Ser35TrpfsTer6
ENST00000705170.1:c.104del	ENSP00000516073.1:p.Ser35TrpfsTer6
ENST00000705171.1:n.896del
ENST00000705173.1:c.*160del	ENSP00000516075.1:n.*160del
ENST00000705175.1:c.977del	ENSP00000516077.1:p.Ser326TrpfsTer6
ENST00000705176.1:c.1037del	ENSP00000516078.1:p.Ser346TrpfsTer6
ENST00000705177.1:c.*435del	ENSP00000516079.1:n.*435del
ENST00000705178.1:c.374del	ENSP00000516080.1:p.Ser125TrpfsTer6
ENST00000705179.1:c.569del	ENSP00000516081.1:p.Ser190TrpfsTer6
ENST00000705180.1:c.509del	ENSP00000516082.1:p.Ser170TrpfsTer6
ENST00000705235.1:c.851del	ENSP00000516093.1:p.Ser284TrpfsTer6
ENST00000705236.1:c.791del	ENSP00000516094.1:p.Ser264TrpfsTer6
ENST00000705237.1:c.509del	ENSP00000516095.1:p.Ser170TrpfsTer6
ENST00000705238.1:c.710del	ENSP00000516096.1:p.Ser237TrpfsTer6
ENST00000705239.1:c.788del	ENSP00000516097.1:p.Ser263TrpfsTer6
ENST00000705240.1:c.*460del	ENSP00000516098.1:n.*460del
ENST00000705241.1:c.787del	ENSP00000516099.1:p.Arg263GlyfsTer22
ENST00000705242.1:c.788del	ENSP00000516100.1:p.Ser263TrpfsTer6
ENST00000705249.1:c.791del	ENSP00000516101.1:p.Ser264TrpfsTer6
ENST00000705250.1:c.569del	ENSP00000516102.1:p.Ser190TrpfsTer6
ENST00000705251.1:c.*438del	ENSP00000516103.1:n.*438del
ENST00000705252.1:c.*261del	ENSP00000516104.1:n.*261del
ENST00000705253.1:c.*261del	ENSP00000516105.1:n.*261del
ENST00000705254.1:c.398del	ENSP00000516106.1:p.Ser133TrpfsTer6
ENST00000705255.1:n.1417del
ENST00000705256.1:c.848del	ENSP00000516107.1:p.Ser283TrpfsTer6
ENST00000366847.9:c.851del MANE Select	ENSP00000355812.3:p.Ser284TrpfsTer6
ENST00000349556.4:c.791del	ENSP00000230248.6:p.Ser264TrpfsTer6
ENST00000366847.8:c.851del	ENSP00000355812.3:p.Ser284TrpfsTer6
ENST00000488525.1:n.37del
ENST00000496181.1:n.255del
ENST00000622353.4:c.710del	ENSP00000479115.1:p.Ser237TrpfsTer6
NM_001278690.1:c.710del	NP_001265619.1:p.Ser237TrpfsTer6
NM_007045.3:c.851del	NP_008976.1:p.Ser284TrpfsTer6
NM_194429.2:c.791del	NP_919410.1:p.Ser264TrpfsTer6
NM_007045.4:c.851del MANE Select	NP_008976.1:p.Ser284TrpfsTer6
NM_194429.3:c.791del	NP_919410.1:p.Ser264TrpfsTer6
NM_001278690.2:c.710del	NP_001265619.1:p.Ser237TrpfsTer6