Canonical Allele Identifier: CA2628343539

Gene: CEP152

Linked Data

• gnomAD v4: 15-48756446-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48756450_48756451del , CM000677.2:g.48756450_48756451del	GRCh38
NC_000015.9:g.49048647_49048648del , CM000677.1:g.49048647_49048648del	GRCh37
NC_000015.8:g.46835939_46835940del	NCBI36
NG_027518.1:g.59699_59700del
NG_027518.2:g.59699_59700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.2800_2801del MANE Select	ENSP00000370337.2:p.Leu934SerfsTer5
ENST00000325747.9:c.2521_2522del	ENSP00000321000.5:p.Leu841SerfsTer5
ENST00000380950.6:c.2800_2801del	ENSP00000370337.2:p.Leu934SerfsTer5
ENST00000399334.7:c.2800_2801del	ENSP00000382271.3:p.Leu934SerfsTer5
NM_001194998.1:c.2800_2801del	NP_001181927.1:p.Leu934SerfsTer5
NM_014985.3:c.2800_2801del	NP_055800.2:p.Leu934SerfsTer5
XM_006720437.2:c.2800_2801del	XP_006720500.1:p.Leu934SerfsTer5
XM_011521373.1:c.2800_2801del	XP_011519675.1:p.Leu934SerfsTer5
XM_011521374.1:c.2800_2801del	XP_011519676.1:p.Leu934SerfsTer5
XM_011521375.1:c.2800_2801del	XP_011519677.1:p.Leu934SerfsTer5
XM_011521376.1:c.2800_2801del	XP_011519678.1:p.Leu934SerfsTer5
XM_011521377.1:c.2800_2801del	XP_011519679.1:p.Leu934SerfsTer5
XM_011521378.1:c.2800_2801del	XP_011519680.1:p.Leu934SerfsTer5
XM_011521379.1:c.2800_2801del	XP_011519681.1:p.Leu934SerfsTer5
XM_011521380.1:c.841_842del	XP_011519682.1:p.Leu281SerfsTer5
XM_011521381.1:c.835_836del	XP_011519683.1:p.Leu279SerfsTer5
XR_931769.1:n.3765_3766del
XR_931770.1:n.3765_3766del
XR_931771.1:n.3765_3766del
XR_931772.1:n.3765_3766del
XR_931773.1:n.3765_3766del
XR_931774.1:n.3765_3766del
XR_931775.1:n.3765_3766del
XM_006720437.3:c.2800_2801del	XP_006720500.1:p.Leu934SerfsTer5
XM_011521373.3:c.2800_2801del	XP_011519675.1:p.Leu934SerfsTer5
XM_011521374.3:c.2800_2801del	XP_011519676.1:p.Leu934SerfsTer5
XM_011521375.3:c.2800_2801del	XP_011519677.1:p.Leu934SerfsTer5
XM_011521378.3:c.2800_2801del	XP_011519680.1:p.Leu934SerfsTer5
XM_011521379.3:c.2800_2801del	XP_011519681.1:p.Leu934SerfsTer5
XM_011521381.2:c.835_836del	XP_011519683.1:p.Leu279SerfsTer5
XM_017022015.1:c.835_836del	XP_016877504.1:p.Leu279SerfsTer5
XM_024449875.1:c.2800_2801del	XP_024305643.1:p.Leu934SerfsTer5
XR_001751153.2:n.3751_3752del
XR_931769.3:n.3751_3752del
XR_931770.3:n.3751_3752del
XR_931775.3:n.3751_3752del
NM_001194998.2:c.2800_2801del MANE Select	NP_001181927.1:p.Leu934SerfsTer5
NM_014985.4:c.2800_2801del	NP_055800.2:p.Leu934SerfsTer5