Canonical Allele Identifier: CA1680192036

Gene: CEP43

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024886_167024888delinsACT , CM000668.2:g.167024886_167024888delinsACT	GRCh38
NC_000006.11:g.167438374_167438376delinsACT , CM000668.1:g.167438374_167438376delinsACT	GRCh37
NC_000006.10:g.167358364_167358366delinsACT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.851_853delinsACT	ENSP00000230248.6:p.Asp284=
ENST00000488525.2:c.*43_*45delinsACT	ENSP00000516042.1:n.*43_*45delinsACT
ENST00000609590.2:n.1783_1785delinsACT
ENST00000704900.1:c.488_490delinsACT	ENSP00000516059.1:p.Asp163=
ENST00000704901.1:c.*498_*500delinsACT	ENSP00000516060.1:n.*498_*500delinsACT
ENST00000704959.1:n.1176_1178delinsACT
ENST00000704982.1:n.1621_1623delinsACT
ENST00000704985.1:n.2017_2019delinsACT
ENST00000704986.1:n.2017_2019delinsACT
ENST00000705029.1:n.1742_1744delinsACT
ENST00000705059.1:n.1566_1568delinsACT
ENST00000705168.1:c.164_166delinsACT	ENSP00000516071.1:p.Asp55=
ENST00000705169.1:c.164_166delinsACT	ENSP00000516072.1:p.Asp55=
ENST00000705170.1:c.164_166delinsACT	ENSP00000516073.1:p.Asp55=
ENST00000705171.1:n.956_958delinsACT
ENST00000705173.1:c.*220_*222delinsACT	ENSP00000516075.1:n.*220_*222delinsACT
ENST00000705175.1:c.1037_1039delinsACT	ENSP00000516077.1:p.Asp346=
ENST00000705176.1:c.1097_1099delinsACT	ENSP00000516078.1:p.Asp366=
ENST00000705177.1:c.*495_*497delinsACT	ENSP00000516079.1:n.*495_*497delinsACT
ENST00000705178.1:c.434_436delinsACT	ENSP00000516080.1:p.Asp145=
ENST00000705179.1:c.629_631delinsACT	ENSP00000516081.1:p.Asp210=
ENST00000705180.1:c.569_571delinsACT	ENSP00000516082.1:p.Asp190=
ENST00000705235.1:c.911_913delinsACT	ENSP00000516093.1:p.Asp304=
ENST00000705236.1:c.851_853delinsACT	ENSP00000516094.1:p.Asp284=
ENST00000705237.1:c.569_571delinsACT	ENSP00000516095.1:p.Asp190=
ENST00000705238.1:c.770_772delinsACT	ENSP00000516096.1:p.Asp257=
ENST00000705239.1:c.848_850delinsACT	ENSP00000516097.1:p.Asp283=
ENST00000705240.1:c.*520_*522delinsACT	ENSP00000516098.1:n.*520_*522delinsACT
ENST00000705241.1:c.*43_*45delinsACT	ENSP00000516099.1:n.*43_*45delinsACT
ENST00000705242.1:c.848_850delinsACT	ENSP00000516100.1:p.Asp283=
ENST00000705249.1:c.851_853delinsACT	ENSP00000516101.1:p.Asp284=
ENST00000705250.1:c.629_631delinsACT	ENSP00000516102.1:p.Asp210=
ENST00000705251.1:c.*498_*500delinsACT	ENSP00000516103.1:n.*498_*500delinsACT
ENST00000705252.1:c.*321_*323delinsACT	ENSP00000516104.1:n.*321_*323delinsACT
ENST00000705253.1:c.*321_*323delinsACT	ENSP00000516105.1:n.*321_*323delinsACT
ENST00000705254.1:c.458_460delinsACT	ENSP00000516106.1:p.Asp153=
ENST00000705255.1:n.1477_1479delinsACT
ENST00000705256.1:c.908_910delinsACT	ENSP00000516107.1:p.Asp303=
ENST00000366847.9:c.911_913delinsACT MANE Select	ENSP00000355812.3:p.Asp304=
ENST00000349556.4:c.851_853delinsACT	ENSP00000230248.6:p.Asp284=
ENST00000366847.8:c.911_913delinsACT	ENSP00000355812.3:p.Asp304=
ENST00000488525.1:n.97_99delinsACT
ENST00000496181.1:n.315_317delinsACT
ENST00000622353.4:c.770_772delinsACT	ENSP00000479115.1:p.Asp257=
NM_001278690.1:c.770_772delinsACT	NP_001265619.1:p.Asp257=
NM_007045.3:c.911_913delinsACT	NP_008976.1:p.Asp304=
NM_194429.2:c.851_853delinsACT	NP_919410.1:p.Asp284=
NM_007045.4:c.911_913delinsACT MANE Select	NP_008976.1:p.Asp304=
NM_194429.3:c.851_853delinsACT	NP_919410.1:p.Asp284=
NM_001278690.2:c.770_772delinsACT	NP_001265619.1:p.Asp257=