Canonical Allele Identifier: CA151913517

Gene: CEP43

Linked Data

• dbSNP Id: rs373374377
• gnomAD v2: 6-167438457-A-AT
• gnomAD v3: 6-167024969-A-AT
• gnomAD v4: 6-167024969-A-AT
• MyVariant Identifiers: chr6:g.167438457_167438458insT (hg19) ; chr6:g.167024969_167024970insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024977dup , CM000668.2:g.167024977dup	GRCh38
NC_000006.11:g.167438465dup , CM000668.1:g.167438465dup	GRCh37
NC_000006.10:g.167358455dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.859+83dup	ENSP00000230248.6:n.859+83dup
ENST00000488525.2:c.*51+83dup	ENSP00000516042.1:n.*51+83dup
ENST00000609590.2:n.1791+83dup
ENST00000704900.1:c.496+83dup	ENSP00000516059.1:n.496+83dup
ENST00000704901.1:c.*506+83dup	ENSP00000516060.1:n.*506+83dup
ENST00000704959.1:n.1184+83dup
ENST00000704982.1:n.1629+83dup
ENST00000704985.1:n.2025+83dup
ENST00000704986.1:n.2025+83dup
ENST00000705029.1:n.1750+83dup
ENST00000705059.1:n.1574+83dup
ENST00000705168.1:c.172+83dup	ENSP00000516071.1:n.172+83dup
ENST00000705169.1:c.172+83dup	ENSP00000516072.1:n.172+83dup
ENST00000705170.1:c.172+83dup	ENSP00000516073.1:n.172+83dup
ENST00000705171.1:n.964+83dup
ENST00000705173.1:c.*228+83dup	ENSP00000516075.1:n.*228+83dup
ENST00000705175.1:c.1045+83dup	ENSP00000516077.1:n.1045+83dup
ENST00000705176.1:c.1105+83dup	ENSP00000516078.1:n.1105+83dup
ENST00000705177.1:c.*503+83dup	ENSP00000516079.1:n.*503+83dup
ENST00000705178.1:c.442+83dup	ENSP00000516080.1:n.442+83dup
ENST00000705179.1:c.637+83dup	ENSP00000516081.1:n.637+83dup
ENST00000705180.1:c.577+83dup	ENSP00000516082.1:n.577+83dup
ENST00000705235.1:c.919+83dup	ENSP00000516093.1:n.919+83dup
ENST00000705236.1:c.859+83dup	ENSP00000516094.1:n.859+83dup
ENST00000705237.1:c.577+83dup	ENSP00000516095.1:n.577+83dup
ENST00000705238.1:c.778+83dup	ENSP00000516096.1:n.778+83dup
ENST00000705239.1:c.856+83dup	ENSP00000516097.1:n.856+83dup
ENST00000705240.1:c.*528+83dup	ENSP00000516098.1:n.*528+83dup
ENST00000705241.1:c.*51+83dup	ENSP00000516099.1:n.*51+83dup
ENST00000705242.1:c.856+83dup	ENSP00000516100.1:n.856+83dup
ENST00000705249.1:c.859+83dup	ENSP00000516101.1:n.859+83dup
ENST00000705250.1:c.637+83dup	ENSP00000516102.1:n.637+83dup
ENST00000705251.1:c.*506+83dup	ENSP00000516103.1:n.*506+83dup
ENST00000705252.1:c.*329+83dup	ENSP00000516104.1:n.*329+83dup
ENST00000705253.1:c.*329+83dup	ENSP00000516105.1:n.*329+83dup
ENST00000705254.1:c.466+83dup	ENSP00000516106.1:n.466+83dup
ENST00000705255.1:n.1485+83dup
ENST00000705256.1:c.916+83dup	ENSP00000516107.1:n.916+83dup
ENST00000366847.9:c.919+83dup MANE Select	ENSP00000355812.3:n.919+83dup
ENST00000349556.4:c.859+83dup	ENSP00000230248.6:n.859+83dup
ENST00000366847.8:c.919+83dup	ENSP00000355812.3:n.919+83dup
ENST00000488525.1:n.105+83dup
ENST00000496181.1:n.406dup
ENST00000622353.4:c.778+83dup	ENSP00000479115.1:n.778+83dup
NM_001278690.1:c.778+83dup	NP_001265619.1:n.778+83dup
NM_007045.3:c.919+83dup	NP_008976.1:n.919+83dup
NM_194429.2:c.859+83dup	NP_919410.1:n.859+83dup
NM_007045.4:c.919+83dup MANE Select	NP_008976.1:n.919+83dup
NM_194429.3:c.859+83dup	NP_919410.1:n.859+83dup
NM_001278690.2:c.778+83dup	NP_001265619.1:n.778+83dup