Canonical Allele Identifier: CA476267020

Gene: CEP295

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.93667661_93667662del , CM000673.2:g.93667661_93667662del	GRCh38
NC_000011.9:g.93400827_93400828del , CM000673.1:g.93400827_93400828del	GRCh37
NC_000011.8:g.93040475_93040476del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_033395.2:c.163_164del MANE Select	NP_203753.1:p.Arg55GlufsTer?
ENST00000325212.11:c.163_164del MANE Select	ENSP00000316681.6:p.Arg55GlufsTer?
NM_033395.1:c.163_164del	NP_203753.1:p.Arg55GlufsTer?
ENST00000325212.10:c.163_164del	ENSP00000316681.6:p.Arg55GlufsTer?
XM_005274366.1:c.163_164del	XP_005274423.1:p.Arg55GlufsTer?
XM_005274367.1:c.163_164del	XP_005274424.1:p.Arg55GlufsTer?
XM_005274367.2:c.163_164del	XP_005274424.1:p.Arg55GlufsTer?
XM_005274368.1:c.163_164del	XP_005274425.1:p.Arg55GlufsTer?
XM_005274368.2:c.163_164del	XP_005274425.1:p.Arg55GlufsTer?
XM_011543047.1:c.163_164del	XP_011541349.1:p.Arg55GlufsTer?
XM_011543048.1:c.163_164del	XP_011541350.1:p.Arg55GlufsTer?
XM_011543049.1:c.163_164del	XP_011541351.1:p.Arg55GlufsTer?
XM_011543052.1:c.163_164del	XP_011541354.1:p.Arg55GlufsTer?
XM_017018470.1:c.163_164del	XP_016873959.1:p.Arg55GlufsTer?
XM_017018471.1:c.163_164del	XP_016873960.1:p.Arg55GlufsTer?
XM_017018472.1:c.163_164del	XP_016873961.1:p.Arg55GlufsTer?
XM_017018473.1:c.-533_-532del	XP_016873962.1:n.-533_-532del
XM_017018475.1:c.-533_-532del	XP_016873964.1:n.-533_-532del
XM_024448744.1:c.-1270_-1269del	XP_024304512.1:n.-1270_-1269del
XR_001748019.1:n.278_279del
XR_001748020.1:n.278_279del
XR_001748021.1:n.278_279del
XR_947866.1:n.278_279del
XR_947867.1:n.278_279del