Canonical Allele Identifier: CA3386962
Community Standard Title: NM_001375405.1(CEP120):c.1431-11_1431-9del
Gene: CEP120 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.123386676_123386678del , CM000667.2:g.123386676_123386678del GRCh38
NC_000005.9:g.122722370_122722372del , CM000667.1:g.122722370_122722372del GRCh37
NC_000005.8:g.122750269_122750271del NCBI36
NG_042125.1:g.41915_41917del

Transcript Alleles

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