Canonical Allele Identifier: CA125978705

Gene: CEP120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.123391607_123391612del , CM000667.2:g.123391607_123391612del	GRCh38
NC_000005.9:g.122727301_122727306del , CM000667.1:g.122727301_122727306del	GRCh37
NC_000005.8:g.122755200_122755205del	NCBI36
NG_042125.1:g.36985_36990del

Transcript Alleles

HGVS	Amino-acid Change
NM_001375405.1:c.811-271_811-266del MANE Select	NP_001362334.1:n.811-271_811-266del
ENST00000306467.10:c.811-271_811-266del MANE Select	ENSP00000303058.6:n.811-271_811-266del
NM_001166226.1:c.733-271_733-266del	NP_001159698.1:n.733-271_733-266del
NM_001166226.2:c.733-271_733-266del	NP_001159698.1:n.733-271_733-266del
NM_001375406.1:c.811-271_811-266del	NP_001362335.1:n.811-271_811-266del
NM_001375407.1:c.811-271_811-266del	NP_001362336.1:n.811-271_811-266del
NM_001375408.1:c.238-271_238-266del	NP_001362337.1:n.238-271_238-266del
NM_001375409.1:c.238-271_238-266del	NP_001362338.1:n.238-271_238-266del
NM_153223.3:c.811-271_811-266del	NP_694955.2:n.811-271_811-266del
NM_153223.4:c.811-271_811-266del	NP_694955.2:n.811-271_811-266del
NR_164685.1:n.1216-271_1216-266del
ENST00000306467.9:c.811-271_811-266del	ENSP00000303058.5:n.811-271_811-266del
ENST00000306481.10:c.733-271_733-266del	ENSP00000307419.6:n.733-271_733-266del
ENST00000306481.11:c.733-271_733-266del	ENSP00000307419.6:n.733-271_733-266del
ENST00000328236.10:c.811-271_811-266del	ENSP00000327504.5:n.811-271_811-266del
ENST00000328236.9:c.811-271_811-266del	ENSP00000327504.5:n.811-271_811-266del
ENST00000503049.1:n.151-271_151-266del
ENST00000503049.2:n.866-271_866-266del
ENST00000508138.5:c.*383-271_*383-266del	ENSP00000422234.1:n.*383-271_*383-266del
ENST00000508442.6:c.733-271_733-266del	ENSP00000421620.2:n.733-271_733-266del
ENST00000508442.7:c.733-271_733-266del	ENSP00000421620.3:n.733-271_733-266del
ENST00000513565.6:c.811-271_811-266del	ENSP00000422089.2:n.811-271_811-266del
ENST00000674620.1:c.*297-271_*297-266del	ENSP00000501651.1:n.*297-271_*297-266del
ENST00000674667.1:c.811-271_811-266del	ENSP00000502819.1:n.811-271_811-266del
ENST00000674684.1:c.811-271_811-266del	ENSP00000501697.1:n.811-271_811-266del
ENST00000675003.1:n.1181-271_1181-266del
ENST00000675104.1:c.811-271_811-266del	ENSP00000502078.1:n.811-271_811-266del
ENST00000675283.1:n.646-271_646-266del
ENST00000675330.1:c.811-271_811-266del	ENSP00000502634.1:n.811-271_811-266del
ENST00000675409.1:n.1261-271_1261-266del
ENST00000675442.1:c.733-271_733-266del	ENSP00000502221.1:n.733-271_733-266del
ENST00000675444.1:n.1234-271_1234-266del
ENST00000675686.1:c.*707-271_*707-266del	ENSP00000501801.1:n.*707-271_*707-266del
ENST00000675814.1:c.*364-271_*364-266del	ENSP00000502121.1:n.*364-271_*364-266del
ENST00000675852.1:n.1713-271_1713-266del
XM_005271901.3:c.811-271_811-266del	XP_005271958.1:n.811-271_811-266del
XM_005271901.5:c.811-271_811-266del	XP_005271958.1:n.811-271_811-266del
XM_011543185.1:c.733-271_733-266del	XP_011541487.1:n.733-271_733-266del
XM_011543185.2:c.733-271_733-266del	XP_011541487.1:n.733-271_733-266del
XM_011543186.2:c.-785-271_-785-266del	XP_011541488.1:n.-785-271_-785-266del
XM_017009085.1:c.-650-271_-650-266del	XP_016864574.1:n.-650-271_-650-266del
XM_024454370.1:c.811-271_811-266del	XP_024310138.1:n.811-271_811-266del