Canonical Allele Identifier: CA7548466

Gene: CEP152

Linked Data

• dbSNP Id: rs779662026
• ExAC: 15:49048611 ACTT / A
• gnomAD v2: 15-49048611-ACTT-A
• gnomAD v3: 15-48756414-ACTT-A
• gnomAD v4: 15-48756414-ACTT-A
• MyVariant Identifiers: chr15:g.49048612_49048614del (hg19) ; chr15:g.48756416_48756418del (hg38) ; chr15:g.48756415_48756417del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48756419_48756421del , CM000677.2:g.48756419_48756421del	GRCh38
NC_000015.9:g.49048616_49048618del , CM000677.1:g.49048616_49048618del	GRCh37
NC_000015.8:g.46835908_46835910del	NCBI36
NG_027518.1:g.59730_59732del
NG_027518.2:g.59730_59732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.2831_2833del MANE Select	ENSP00000370337.2:p.Glu944del
ENST00000325747.9:c.2552_2554del	ENSP00000321000.5:p.Glu851del
ENST00000380950.6:c.2831_2833del	ENSP00000370337.2:p.Glu944del
ENST00000399334.7:c.2831_2833del	ENSP00000382271.3:p.Glu944del
NM_001194998.1:c.2831_2833del	NP_001181927.1:p.Glu944del
NM_014985.3:c.2831_2833del	NP_055800.2:p.Glu944del
XM_006720437.2:c.2831_2833del	XP_006720500.1:p.Glu944del
XM_011521373.1:c.2831_2833del	XP_011519675.1:p.Glu944del
XM_011521374.1:c.2831_2833del	XP_011519676.1:p.Glu944del
XM_011521375.1:c.2831_2833del	XP_011519677.1:p.Glu944del
XM_011521376.1:c.2831_2833del	XP_011519678.1:p.Glu944del
XM_011521377.1:c.2831_2833del	XP_011519679.1:p.Glu944del
XM_011521378.1:c.2831_2833del	XP_011519680.1:p.Glu944del
XM_011521379.1:c.2831_2833del	XP_011519681.1:p.Glu944del
XM_011521380.1:c.872_874del	XP_011519682.1:p.Glu291del
XM_011521381.1:c.866_868del	XP_011519683.1:p.Glu289del
XR_931769.1:n.3796_3798del
XR_931770.1:n.3796_3798del
XR_931771.1:n.3796_3798del
XR_931772.1:n.3796_3798del
XR_931773.1:n.3796_3798del
XR_931774.1:n.3796_3798del
XR_931775.1:n.3796_3798del
XM_006720437.3:c.2831_2833del	XP_006720500.1:p.Glu944del
XM_011521373.3:c.2831_2833del	XP_011519675.1:p.Glu944del
XM_011521374.3:c.2831_2833del	XP_011519676.1:p.Glu944del
XM_011521375.3:c.2831_2833del	XP_011519677.1:p.Glu944del
XM_011521378.3:c.2831_2833del	XP_011519680.1:p.Glu944del
XM_011521379.3:c.2831_2833del	XP_011519681.1:p.Glu944del
XM_011521381.2:c.866_868del	XP_011519683.1:p.Glu289del
XM_017022015.1:c.866_868del	XP_016877504.1:p.Glu289del
XM_024449875.1:c.2831_2833del	XP_024305643.1:p.Glu944del
XR_001751153.2:n.3782_3784del
XR_931769.3:n.3782_3784del
XR_931770.3:n.3782_3784del
XR_931775.3:n.3782_3784del
NM_001194998.2:c.2831_2833del MANE Select	NP_001181927.1:p.Glu944del
NM_014985.4:c.2831_2833del	NP_055800.2:p.Glu944del