Canonical Allele Identifier: CA3386964

Gene: CEP120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.123386676_123386679del , CM000667.2:g.123386676_123386679del	GRCh38
NC_000005.9:g.122722370_122722373del , CM000667.1:g.122722370_122722373del	GRCh37
NC_000005.8:g.122750269_122750272del	NCBI36
NG_042125.1:g.41914_41917del

Transcript Alleles

HGVS	Amino-acid Change
NM_001375405.1:c.1431-12_1431-9del MANE Select	NP_001362334.1:n.1431-12_1431-9del
ENST00000306467.10:c.1431-12_1431-9del MANE Select	ENSP00000303058.6:n.1431-12_1431-9del
NM_001166226.1:c.1353-12_1353-9del	NP_001159698.1:n.1353-12_1353-9del
NM_001166226.2:c.1353-12_1353-9del	NP_001159698.1:n.1353-12_1353-9del
NM_001375406.1:c.1296-12_1296-9del	NP_001362335.1:n.1296-12_1296-9del
NM_001375407.1:c.1431-12_1431-9del	NP_001362336.1:n.1431-12_1431-9del
NM_001375408.1:c.858-12_858-9del	NP_001362337.1:n.858-12_858-9del
NM_001375409.1:c.858-12_858-9del	NP_001362338.1:n.858-12_858-9del
NM_153223.3:c.1431-12_1431-9del	NP_694955.2:n.1431-12_1431-9del
NM_153223.4:c.1431-12_1431-9del	NP_694955.2:n.1431-12_1431-9del
NR_164685.1:n.2189-12_2189-9del
ENST00000306467.9:c.1431-12_1431-9del	ENSP00000303058.5:n.1431-12_1431-9del
ENST00000306481.10:c.1353-12_1353-9del	ENSP00000307419.6:n.1353-12_1353-9del
ENST00000306481.11:c.1353-12_1353-9del	ENSP00000307419.6:n.1353-12_1353-9del
ENST00000328236.10:c.1431-12_1431-9del	ENSP00000327504.5:n.1431-12_1431-9del
ENST00000328236.9:c.1431-12_1431-9del	ENSP00000327504.5:n.1431-12_1431-9del
ENST00000503049.2:n.1486-12_1486-9del
ENST00000508138.5:c.*1003-12_*1003-9del	ENSP00000422234.1:n.*1003-12_*1003-9del
ENST00000508442.6:c.1353-12_1353-9del	ENSP00000421620.2:n.1353-12_1353-9del
ENST00000508442.7:c.1353-12_1353-9del	ENSP00000421620.3:n.1353-12_1353-9del
ENST00000513565.6:c.*641-12_*641-9del	ENSP00000422089.2:n.*641-12_*641-9del
ENST00000674620.1:c.*782-12_*782-9del	ENSP00000501651.1:n.*782-12_*782-9del
ENST00000674667.1:c.*92-12_*92-9del	ENSP00000502819.1:n.*92-12_*92-9del
ENST00000674684.1:c.1431-12_1431-9del	ENSP00000501697.1:n.1431-12_1431-9del
ENST00000675003.1:n.1929-12_1929-9del
ENST00000675104.1:c.*92-12_*92-9del	ENSP00000502078.1:n.*92-12_*92-9del
ENST00000675283.1:n.1266-12_1266-9del
ENST00000675330.1:c.1296-12_1296-9del	ENSP00000502634.1:n.1296-12_1296-9del
ENST00000675409.1:n.2009-12_2009-9del
ENST00000675442.1:c.1353-12_1353-9del	ENSP00000502221.1:n.1353-12_1353-9del
ENST00000675444.1:n.1854-12_1854-9del
ENST00000675686.1:c.*1327-12_*1327-9del	ENSP00000501801.1:n.*1327-12_*1327-9del
ENST00000675814.1:c.*984-12_*984-9del	ENSP00000502121.1:n.*984-12_*984-9del
ENST00000675852.1:n.3302-12_3302-9del
XM_005271901.3:c.1296-12_1296-9del	XP_005271958.1:n.1296-12_1296-9del
XM_005271901.5:c.1296-12_1296-9del	XP_005271958.1:n.1296-12_1296-9del
XM_011543185.1:c.1353-12_1353-9del	XP_011541487.1:n.1353-12_1353-9del
XM_011543185.2:c.1353-12_1353-9del	XP_011541487.1:n.1353-12_1353-9del
XM_011543186.1:c.-37-12_-37-9del	XP_011541488.1:n.-37-12_-37-9del
XM_011543186.2:c.-37-12_-37-9del	XP_011541488.1:n.-37-12_-37-9del
XM_017009085.1:c.-37-12_-37-9del	XP_016864574.1:n.-37-12_-37-9del
XM_024454370.1:c.1431-12_1431-9del	XP_024310138.1:n.1431-12_1431-9del