Canonical Allele Identifier: CA342799

Gene: CEP135

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55965785del , CM000666.2:g.55965785del	GRCh38
NC_000004.11:g.56831951del , CM000666.1:g.56831951del	GRCh37
NC_000004.10:g.56526708del	NCBI36
NG_032806.1:g.21978del

Transcript Alleles

HGVS	Amino-acid Change
NM_025009.5:c.970del MANE Select	NP_079285.2:p.Gln324SerfsTer2
ENST00000257287.5:c.970del MANE Select	ENSP00000257287.3:p.Gln324SerfsTer2
NM_025009.4:c.970del	NP_079285.2:p.Gln324SerfsTer2
ENST00000257287.4:c.970del	ENSP00000257287.3:p.Gln324SerfsTer2
ENST00000506202.1:n.920del
ENST00000515081.1:n.604del
XM_005265788.2:c.-98del	XP_005265845.1:n.-98del
XM_005265788.4:c.-98del	XP_005265845.1:n.-98del
XM_006714055.2:c.970del	XP_006714118.1:p.Gln324SerfsTer2
XM_006714055.3:c.970del	XP_006714118.1:p.Gln324SerfsTer2
XR_941063.1:n.472-782del
XR_941064.1:n.471+4988del