Canonical Allele Identifier: CA3387185

Gene: CEP120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.123399107dup , CM000667.2:g.123399107dup	GRCh38
NC_000005.9:g.122734801dup , CM000667.1:g.122734801dup	GRCh37
NC_000005.8:g.122762700dup	NCBI36
NG_042125.1:g.29486dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001375405.1:c.612+29dup MANE Select	NP_001362334.1:n.612+29dup
ENST00000306467.10:c.612+29dup MANE Select	ENSP00000303058.6:n.612+29dup
NM_001166226.1:c.534+29dup	NP_001159698.1:n.534+29dup
NM_001166226.2:c.534+29dup	NP_001159698.1:n.534+29dup
NM_001375406.1:c.612+29dup	NP_001362335.1:n.612+29dup
NM_001375407.1:c.612+29dup	NP_001362336.1:n.612+29dup
NM_001375408.1:c.39+29dup	NP_001362337.1:n.39+29dup
NM_001375409.1:c.39+29dup	NP_001362338.1:n.39+29dup
NM_153223.3:c.612+29dup	NP_694955.2:n.612+29dup
NM_153223.4:c.612+29dup	NP_694955.2:n.612+29dup
NR_164685.1:n.1017+29dup
ENST00000306467.9:c.612+29dup	ENSP00000303058.5:n.612+29dup
ENST00000306481.10:c.534+29dup	ENSP00000307419.6:n.534+29dup
ENST00000306481.11:c.534+29dup	ENSP00000307419.6:n.534+29dup
ENST00000328236.10:c.612+29dup	ENSP00000327504.5:n.612+29dup
ENST00000328236.9:c.612+29dup	ENSP00000327504.5:n.612+29dup
ENST00000503049.2:n.667+29dup
ENST00000508138.5:c.*184+29dup	ENSP00000422234.1:n.*184+29dup
ENST00000508442.6:c.534+29dup	ENSP00000421620.2:n.534+29dup
ENST00000508442.7:c.534+29dup	ENSP00000421620.3:n.534+29dup
ENST00000513565.6:c.612+29dup	ENSP00000422089.2:n.612+29dup
ENST00000674620.1:c.*98+29dup	ENSP00000501651.1:n.*98+29dup
ENST00000674667.1:c.612+29dup	ENSP00000502819.1:n.612+29dup
ENST00000674684.1:c.612+29dup	ENSP00000501697.1:n.612+29dup
ENST00000675003.1:n.982+29dup
ENST00000675104.1:c.612+29dup	ENSP00000502078.1:n.612+29dup
ENST00000675283.1:n.447+29dup
ENST00000675330.1:c.612+29dup	ENSP00000502634.1:n.612+29dup
ENST00000675409.1:n.1062+29dup
ENST00000675442.1:c.534+29dup	ENSP00000502221.1:n.534+29dup
ENST00000675444.1:n.1035+29dup
ENST00000675686.1:c.*508+29dup	ENSP00000501801.1:n.*508+29dup
ENST00000675814.1:c.*165+29dup	ENSP00000502121.1:n.*165+29dup
ENST00000675852.1:n.1514+29dup
XM_005271901.3:c.612+29dup	XP_005271958.1:n.612+29dup
XM_005271901.5:c.612+29dup	XP_005271958.1:n.612+29dup
XM_011543185.1:c.534+29dup	XP_011541487.1:n.534+29dup
XM_011543185.2:c.534+29dup	XP_011541487.1:n.534+29dup
XM_011543186.2:c.-984+29dup	XP_011541488.1:n.-984+29dup
XM_017009085.1:c.-849+29dup	XP_016864574.1:n.-849+29dup
XM_024454370.1:c.612+29dup	XP_024310138.1:n.612+29dup