Canonical Allele Identifier: CA571931144

Gene: CEP43

Linked Data

• dbSNP Id: rs1309811363
• gnomAD v2: 6-167438284-G-GGAA
• gnomAD v3: 6-167024796-G-GGAA
• gnomAD v4: 6-167024796-G-GGAA
• MyVariant Identifiers: chr6:g.167438284_167438285insGAA (hg19) ; chr6:g.167024796_167024797insGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024798_167024800dup , CM000668.2:g.167024798_167024800dup	GRCh38
NC_000006.11:g.167438286_167438288dup , CM000668.1:g.167438286_167438288dup	GRCh37
NC_000006.10:g.167358276_167358278dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.763_765dup	ENSP00000230248.6:p.Lys255_Gln256insLys
ENST00000488525.2:c.819_821dup	ENSP00000516042.1:p.Gly273_Ser274insArg
ENST00000609590.2:n.1695_1697dup
ENST00000704900.1:c.400_402dup	ENSP00000516059.1:p.Lys134_Gln135insLys
ENST00000704901.1:c.*410_*412dup	ENSP00000516060.1:n.*410_*412dup
ENST00000704959.1:n.1088_1090dup
ENST00000704982.1:n.1533_1535dup
ENST00000704985.1:n.1929_1931dup
ENST00000704986.1:n.1929_1931dup
ENST00000705029.1:n.1654_1656dup
ENST00000705059.1:n.1478_1480dup
ENST00000705168.1:c.76_78dup	ENSP00000516071.1:p.Lys26_Gln27insLys
ENST00000705169.1:c.76_78dup	ENSP00000516072.1:p.Lys26_Gln27insLys
ENST00000705170.1:c.76_78dup	ENSP00000516073.1:p.Lys26_Gln27insLys
ENST00000705171.1:n.868_870dup
ENST00000705173.1:c.*132_*134dup	ENSP00000516075.1:n.*132_*134dup
ENST00000705175.1:c.949_951dup	ENSP00000516077.1:p.Lys317_Gln318insLys
ENST00000705176.1:c.1009_1011dup	ENSP00000516078.1:p.Lys337_Gln338insLys
ENST00000705177.1:c.*407_*409dup	ENSP00000516079.1:n.*407_*409dup
ENST00000705178.1:c.346_348dup	ENSP00000516080.1:p.Lys116_Gln117insLys
ENST00000705179.1:c.541_543dup	ENSP00000516081.1:p.Lys181_Gln182insLys
ENST00000705180.1:c.481_483dup	ENSP00000516082.1:p.Lys161_Gln162insLys
ENST00000705235.1:c.823_825dup	ENSP00000516093.1:p.Lys275_Gln276insLys
ENST00000705236.1:c.763_765dup	ENSP00000516094.1:p.Lys255_Gln256insLys
ENST00000705237.1:c.481_483dup	ENSP00000516095.1:p.Lys161_Gln162insLys
ENST00000705238.1:c.682_684dup	ENSP00000516096.1:p.Lys228_Gln229insLys
ENST00000705239.1:c.760_762dup	ENSP00000516097.1:p.Lys254_Gln255insLys
ENST00000705240.1:c.*432_*434dup	ENSP00000516098.1:n.*432_*434dup
ENST00000705241.1:c.759_761dup	ENSP00000516099.1:p.Gly253_Ser254insArg
ENST00000705242.1:c.760_762dup	ENSP00000516100.1:p.Lys254_Gln255insLys
ENST00000705249.1:c.763_765dup	ENSP00000516101.1:p.Lys255_Gln256insLys
ENST00000705250.1:c.541_543dup	ENSP00000516102.1:p.Lys181_Gln182insLys
ENST00000705251.1:c.*410_*412dup	ENSP00000516103.1:n.*410_*412dup
ENST00000705252.1:c.*233_*235dup	ENSP00000516104.1:n.*233_*235dup
ENST00000705253.1:c.*233_*235dup	ENSP00000516105.1:n.*233_*235dup
ENST00000705254.1:c.370_372dup	ENSP00000516106.1:p.Lys124_Gln125insLys
ENST00000705255.1:n.1389_1391dup
ENST00000705256.1:c.820_822dup	ENSP00000516107.1:p.Lys274_Gln275insLys
ENST00000366847.9:c.823_825dup MANE Select	ENSP00000355812.3:p.Lys275_Gln276insLys
ENST00000349556.4:c.763_765dup	ENSP00000230248.6:p.Lys255_Gln256insLys
ENST00000366847.8:c.823_825dup	ENSP00000355812.3:p.Lys275_Gln276insLys
ENST00000488525.1:n.9_11dup
ENST00000496181.1:n.227_229dup
ENST00000622353.4:c.682_684dup	ENSP00000479115.1:p.Lys228_Gln229insLys
NM_001278690.1:c.682_684dup	NP_001265619.1:p.Lys228_Gln229insLys
NM_007045.3:c.823_825dup	NP_008976.1:p.Lys275_Gln276insLys
NM_194429.2:c.763_765dup	NP_919410.1:p.Lys255_Gln256insLys
NM_007045.4:c.823_825dup MANE Select	NP_008976.1:p.Lys275_Gln276insLys
NM_194429.3:c.763_765dup	NP_919410.1:p.Lys255_Gln256insLys
NM_001278690.2:c.682_684dup	NP_001265619.1:p.Lys228_Gln229insLys