Canonical Allele Identifier: CA126014602

Gene: CEP120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.123382345del , CM000667.2:g.123382345del	GRCh38
NC_000005.9:g.122718039del , CM000667.1:g.122718039del	GRCh37
NC_000005.8:g.122745938del	NCBI36
NG_042125.1:g.46267del

Transcript Alleles

HGVS	Amino-acid Change
NM_001375405.1:c.2014-126del MANE Select	NP_001362334.1:n.2014-126del
ENST00000306467.10:c.2014-126del MANE Select	ENSP00000303058.6:n.2014-126del
NM_001166226.1:c.1936-126del	NP_001159698.1:n.1936-126del
NM_001166226.2:c.1936-126del	NP_001159698.1:n.1936-126del
NM_001375406.1:c.1879-126del	NP_001362335.1:n.1879-126del
NM_001375407.1:c.2014-126del	NP_001362336.1:n.2014-126del
NM_001375408.1:c.1441-126del	NP_001362337.1:n.1441-126del
NM_001375409.1:c.1441-126del	NP_001362338.1:n.1441-126del
NM_153223.3:c.2014-126del	NP_694955.2:n.2014-126del
NM_153223.4:c.2014-126del	NP_694955.2:n.2014-126del
NR_164685.1:n.2772-126del
ENST00000306467.9:c.2014-126del	ENSP00000303058.5:n.2014-126del
ENST00000306481.10:c.1936-126del	ENSP00000307419.6:n.1936-126del
ENST00000306481.11:c.1936-126del	ENSP00000307419.6:n.1936-126del
ENST00000328236.10:c.2014-126del	ENSP00000327504.5:n.2014-126del
ENST00000328236.9:c.2014-126del	ENSP00000327504.5:n.2014-126del
ENST00000503049.2:n.2069-126del
ENST00000508138.5:c.*1586-126del	ENSP00000422234.1:n.*1586-126del
ENST00000508442.6:c.1936-126del	ENSP00000421620.2:n.1936-126del
ENST00000508442.7:c.1936-126del	ENSP00000421620.3:n.1936-126del
ENST00000513565.6:c.*1224-126del	ENSP00000422089.2:n.*1224-126del
ENST00000674620.1:c.*1365-126del	ENSP00000501651.1:n.*1365-126del
ENST00000674667.1:c.*675-126del	ENSP00000502819.1:n.*675-126del
ENST00000674684.1:c.2014-126del	ENSP00000501697.1:n.2014-126del
ENST00000675003.1:n.2512-126del
ENST00000675104.1:c.*675-126del	ENSP00000502078.1:n.*675-126del
ENST00000675283.1:n.1849-126del
ENST00000675330.1:c.1879-126del	ENSP00000502634.1:n.1879-126del
ENST00000675442.1:c.1936-126del	ENSP00000502221.1:n.1936-126del
ENST00000675444.1:n.2437-126del
ENST00000675686.1:c.*1910-126del	ENSP00000501801.1:n.*1910-126del
ENST00000675814.1:c.*1567-126del	ENSP00000502121.1:n.*1567-126del
ENST00000675852.1:n.3885-126del
ENST00000676068.1:n.568-126del
XM_005271901.3:c.1879-126del	XP_005271958.1:n.1879-126del
XM_005271901.5:c.1879-126del	XP_005271958.1:n.1879-126del
XM_011543185.1:c.1936-126del	XP_011541487.1:n.1936-126del
XM_011543185.2:c.1936-126del	XP_011541487.1:n.1936-126del
XM_011543186.1:c.547-126del	XP_011541488.1:n.547-126del
XM_011543186.2:c.547-126del	XP_011541488.1:n.547-126del
XM_017009085.1:c.547-126del	XP_016864574.1:n.547-126del
XM_024454370.1:c.2014-126del	XP_024310138.1:n.2014-126del