Canonical Allele Identifier: CA571931130

Gene: CEP43

Linked Data

• dbSNP Id: rs1241582488
• gnomAD v2: 6-167437792-CTG-C
• gnomAD v3: 6-167024304-CTG-C
• gnomAD v4: 6-167024304-CTG-C
• MyVariant Identifiers: chr6:g.167437793_167437794del (hg19) ; chr6:g.167024305_167024306del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.167024307_167024308del , CM000668.2:g.167024307_167024308del	GRCh38
NC_000006.11:g.167437795_167437796del , CM000668.1:g.167437795_167437796del	GRCh37
NC_000006.10:g.167357785_167357786del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349556.5:c.747-475_747-474del	ENSP00000230248.6:n.747-475_747-474del
ENST00000488525.2:c.803-475_803-474del	ENSP00000516042.1:n.803-475_803-474del
ENST00000609590.2:n.1682-478_1682-477del
ENST00000704900.1:c.384-475_384-474del	ENSP00000516059.1:n.384-475_384-474del
ENST00000704901.1:c.*394-475_*394-474del	ENSP00000516060.1:n.*394-475_*394-474del
ENST00000704959.1:n.1072-475_1072-474del
ENST00000704982.1:n.1517-475_1517-474del
ENST00000704985.1:n.1913-475_1913-474del
ENST00000704986.1:n.1913-475_1913-474del
ENST00000705029.1:n.1163_1164del
ENST00000705059.1:n.1462-475_1462-474del
ENST00000705168.1:c.60-475_60-474del	ENSP00000516071.1:n.60-475_60-474del
ENST00000705169.1:c.60-475_60-474del	ENSP00000516072.1:n.60-475_60-474del
ENST00000705170.1:c.60-475_60-474del	ENSP00000516073.1:n.60-475_60-474del
ENST00000705171.1:n.852-475_852-474del
ENST00000705173.1:c.*116-475_*116-474del	ENSP00000516075.1:n.*116-475_*116-474del
ENST00000705175.1:c.933-475_933-474del	ENSP00000516077.1:n.933-475_933-474del
ENST00000705176.1:c.993-475_993-474del	ENSP00000516078.1:n.993-475_993-474del
ENST00000705177.1:c.*391-475_*391-474del	ENSP00000516079.1:n.*391-475_*391-474del
ENST00000705178.1:c.330-475_330-474del	ENSP00000516080.1:n.330-475_330-474del
ENST00000705179.1:c.525-475_525-474del	ENSP00000516081.1:n.525-475_525-474del
ENST00000705180.1:c.465-475_465-474del	ENSP00000516082.1:n.465-475_465-474del
ENST00000705235.1:c.807-475_807-474del	ENSP00000516093.1:n.807-475_807-474del
ENST00000705236.1:c.747-475_747-474del	ENSP00000516094.1:n.747-475_747-474del
ENST00000705237.1:c.465-475_465-474del	ENSP00000516095.1:n.465-475_465-474del
ENST00000705238.1:c.666-475_666-474del	ENSP00000516096.1:n.666-475_666-474del
ENST00000705239.1:c.747-478_747-477del	ENSP00000516097.1:n.747-478_747-477del
ENST00000705240.1:c.*416-475_*416-474del	ENSP00000516098.1:n.*416-475_*416-474del
ENST00000705241.1:c.743-475_743-474del	ENSP00000516099.1:n.743-475_743-474del
ENST00000705242.1:c.744-475_744-474del	ENSP00000516100.1:n.744-475_744-474del
ENST00000705249.1:c.747-475_747-474del	ENSP00000516101.1:n.747-475_747-474del
ENST00000705250.1:c.525-475_525-474del	ENSP00000516102.1:n.525-475_525-474del
ENST00000705251.1:c.*394-475_*394-474del	ENSP00000516103.1:n.*394-475_*394-474del
ENST00000705252.1:c.*217-475_*217-474del	ENSP00000516104.1:n.*217-475_*217-474del
ENST00000705253.1:c.*217-475_*217-474del	ENSP00000516105.1:n.*217-475_*217-474del
ENST00000705254.1:c.354-475_354-474del	ENSP00000516106.1:n.354-475_354-474del
ENST00000705255.1:n.1373-475_1373-474del
ENST00000705256.1:c.807-478_807-477del	ENSP00000516107.1:n.807-478_807-477del
ENST00000366847.9:c.807-475_807-474del MANE Select	ENSP00000355812.3:n.807-475_807-474del
ENST00000349556.4:c.747-475_747-474del	ENSP00000230248.6:n.747-475_747-474del
ENST00000366847.8:c.807-475_807-474del	ENSP00000355812.3:n.807-475_807-474del
ENST00000496181.1:n.211-475_211-474del
ENST00000622353.4:c.666-475_666-474del	ENSP00000479115.1:n.666-475_666-474del
NM_001278690.1:c.666-475_666-474del	NP_001265619.1:n.666-475_666-474del
NM_007045.3:c.807-475_807-474del	NP_008976.1:n.807-475_807-474del
NM_194429.2:c.747-475_747-474del	NP_919410.1:n.747-475_747-474del
NM_007045.4:c.807-475_807-474del MANE Select	NP_008976.1:n.807-475_807-474del
NM_194429.3:c.747-475_747-474del	NP_919410.1:n.747-475_747-474del
NM_001278690.2:c.666-475_666-474del	NP_001265619.1:n.666-475_666-474del