Canonical Allele Identifier: CA645550988

Gene: CEP55

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.93518926_93518927delinsAA , CM000672.2:g.93518926_93518927delinsAA	GRCh38
NC_000010.10:g.95278683_95278684delinsAA , CM000672.1:g.95278683_95278684delinsAA	GRCh37
NC_000010.9:g.95268673_95268674delinsAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371485.8:c.1043_1044delinsAA MANE Select	ENSP00000360540.3:p.Arg348Lys
ENST00000371485.7:c.1043_1044delinsAA	ENSP00000360540.3:p.Arg348Lys
ENST00000445435.1:c.562_563delinsAA
ENST00000496302.1:n.92_93delinsAA
NM_001127182.1:c.1043_1044delinsAA	NP_001120654.1:p.Arg348Lys
NM_018131.4:c.1043_1044delinsAA	NP_060601.3:p.Arg348Lys
XM_011539918.1:c.536_537delinsAA	XP_011538220.1:p.Arg179Lys
XM_011539919.1:c.536_537delinsAA	XP_011538221.1:p.Arg179Lys
XM_011539920.1:c.536_537delinsAA	XP_011538222.1:p.Arg179Lys
XM_011539920.2:c.536_537delinsAA	XP_011538222.1:p.Arg179Lys
XM_017016372.1:c.536_537delinsAA	XP_016871861.1:p.Arg179Lys
XM_017016373.1:c.536_537delinsAA	XP_016871862.1:p.Arg179Lys
NM_001127182.2:c.1043_1044delinsAA	NP_001120654.2:p.Arg348Lys
NM_018131.5:c.1043_1044delinsAA MANE Select	NP_060601.4:p.Arg348Lys