Canonical Allele Identifier: CA562695896

Gene: CEP120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.123386507_123386508dup , CM000667.2:g.123386507_123386508dup	GRCh38
NC_000005.9:g.122722201_122722202dup , CM000667.1:g.122722201_122722202dup	GRCh37
NC_000005.8:g.122750100_122750101dup	NCBI36
NG_042125.1:g.42086_42087dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001375405.1:c.1580+11_1580+12dup MANE Select	NP_001362334.1:n.1580+11_1580+12dup
ENST00000306467.10:c.1580+11_1580+12dup MANE Select	ENSP00000303058.6:n.1580+11_1580+12dup
NM_001166226.1:c.1502+11_1502+12dup	NP_001159698.1:n.1502+11_1502+12dup
NM_001166226.2:c.1502+11_1502+12dup	NP_001159698.1:n.1502+11_1502+12dup
NM_001375406.1:c.1445+11_1445+12dup	NP_001362335.1:n.1445+11_1445+12dup
NM_001375407.1:c.1580+11_1580+12dup	NP_001362336.1:n.1580+11_1580+12dup
NM_001375408.1:c.1007+11_1007+12dup	NP_001362337.1:n.1007+11_1007+12dup
NM_001375409.1:c.1007+11_1007+12dup	NP_001362338.1:n.1007+11_1007+12dup
NM_153223.3:c.1580+11_1580+12dup	NP_694955.2:n.1580+11_1580+12dup
NM_153223.4:c.1580+11_1580+12dup	NP_694955.2:n.1580+11_1580+12dup
NR_164685.1:n.2338+11_2338+12dup
ENST00000306467.9:c.1580+11_1580+12dup	ENSP00000303058.5:n.1580+11_1580+12dup
ENST00000306481.10:c.1502+11_1502+12dup	ENSP00000307419.6:n.1502+11_1502+12dup
ENST00000306481.11:c.1502+11_1502+12dup	ENSP00000307419.6:n.1502+11_1502+12dup
ENST00000328236.10:c.1580+11_1580+12dup	ENSP00000327504.5:n.1580+11_1580+12dup
ENST00000328236.9:c.1580+11_1580+12dup	ENSP00000327504.5:n.1580+11_1580+12dup
ENST00000503049.2:n.1635+11_1635+12dup
ENST00000508138.5:c.*1152+11_*1152+12dup	ENSP00000422234.1:n.*1152+11_*1152+12dup
ENST00000508442.6:c.1502+11_1502+12dup	ENSP00000421620.2:n.1502+11_1502+12dup
ENST00000508442.7:c.1502+11_1502+12dup	ENSP00000421620.3:n.1502+11_1502+12dup
ENST00000513565.6:c.*790+11_*790+12dup	ENSP00000422089.2:n.*790+11_*790+12dup
ENST00000674620.1:c.*931+11_*931+12dup	ENSP00000501651.1:n.*931+11_*931+12dup
ENST00000674667.1:c.*241+11_*241+12dup	ENSP00000502819.1:n.*241+11_*241+12dup
ENST00000674684.1:c.1580+11_1580+12dup	ENSP00000501697.1:n.1580+11_1580+12dup
ENST00000675003.1:n.2078+11_2078+12dup
ENST00000675104.1:c.*241+11_*241+12dup	ENSP00000502078.1:n.*241+11_*241+12dup
ENST00000675283.1:n.1415+11_1415+12dup
ENST00000675330.1:c.1445+11_1445+12dup	ENSP00000502634.1:n.1445+11_1445+12dup
ENST00000675409.1:n.2169_2170dup
ENST00000675442.1:c.1502+11_1502+12dup	ENSP00000502221.1:n.1502+11_1502+12dup
ENST00000675444.1:n.2003+11_2003+12dup
ENST00000675686.1:c.*1476+11_*1476+12dup	ENSP00000501801.1:n.*1476+11_*1476+12dup
ENST00000675814.1:c.*1133+11_*1133+12dup	ENSP00000502121.1:n.*1133+11_*1133+12dup
ENST00000675852.1:n.3451+11_3451+12dup
XM_005271901.3:c.1445+11_1445+12dup	XP_005271958.1:n.1445+11_1445+12dup
XM_005271901.5:c.1445+11_1445+12dup	XP_005271958.1:n.1445+11_1445+12dup
XM_011543185.1:c.1502+11_1502+12dup	XP_011541487.1:n.1502+11_1502+12dup
XM_011543185.2:c.1502+11_1502+12dup	XP_011541487.1:n.1502+11_1502+12dup
XM_011543186.1:c.113+11_113+12dup	XP_011541488.1:n.113+11_113+12dup
XM_011543186.2:c.113+11_113+12dup	XP_011541488.1:n.113+11_113+12dup
XM_017009085.1:c.113+11_113+12dup	XP_016864574.1:n.113+11_113+12dup
XM_024454370.1:c.1580+11_1580+12dup	XP_024310138.1:n.1580+11_1580+12dup