Canonical Allele Identifier: CA7548472

Gene: CEP152

Linked Data

• dbSNP Id: rs751157684
• ExAC: 15:49048639 T / TC
• gnomAD v2: 15-49048639-T-TC
• gnomAD v4: 15-48756442-T-TC
• MyVariant Identifiers: chr15:g.49048639_49048640insC (hg19) ; chr15:g.48756442_48756443insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48756443dup , CM000677.2:g.48756443dup	GRCh38
NC_000015.9:g.49048640dup , CM000677.1:g.49048640dup	GRCh37
NC_000015.8:g.46835932dup	NCBI36
NG_027518.1:g.59704dup
NG_027518.2:g.59704dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.2805dup MANE Select	ENSP00000370337.2:p.Lys936GlufsTer4
ENST00000325747.9:c.2526dup	ENSP00000321000.5:p.Lys843GlufsTer4
ENST00000380950.6:c.2805dup	ENSP00000370337.2:p.Lys936GlufsTer4
ENST00000399334.7:c.2805dup	ENSP00000382271.3:p.Lys936GlufsTer4
NM_001194998.1:c.2805dup	NP_001181927.1:p.Lys936GlufsTer4
NM_014985.3:c.2805dup	NP_055800.2:p.Lys936GlufsTer4
XM_006720437.2:c.2805dup	XP_006720500.1:p.Lys936GlufsTer4
XM_011521373.1:c.2805dup	XP_011519675.1:p.Lys936GlufsTer4
XM_011521374.1:c.2805dup	XP_011519676.1:p.Lys936GlufsTer4
XM_011521375.1:c.2805dup	XP_011519677.1:p.Lys936GlufsTer4
XM_011521376.1:c.2805dup	XP_011519678.1:p.Lys936GlufsTer4
XM_011521377.1:c.2805dup	XP_011519679.1:p.Lys936GlufsTer4
XM_011521378.1:c.2805dup	XP_011519680.1:p.Lys936GlufsTer4
XM_011521379.1:c.2805dup	XP_011519681.1:p.Lys936GlufsTer4
XM_011521380.1:c.846dup	XP_011519682.1:p.Lys283GlufsTer4
XM_011521381.1:c.840dup	XP_011519683.1:p.Lys281GlufsTer4
XR_931769.1:n.3770dup
XR_931770.1:n.3770dup
XR_931771.1:n.3770dup
XR_931772.1:n.3770dup
XR_931773.1:n.3770dup
XR_931774.1:n.3770dup
XR_931775.1:n.3770dup
XM_006720437.3:c.2805dup	XP_006720500.1:p.Lys936GlufsTer4
XM_011521373.3:c.2805dup	XP_011519675.1:p.Lys936GlufsTer4
XM_011521374.3:c.2805dup	XP_011519676.1:p.Lys936GlufsTer4
XM_011521375.3:c.2805dup	XP_011519677.1:p.Lys936GlufsTer4
XM_011521378.3:c.2805dup	XP_011519680.1:p.Lys936GlufsTer4
XM_011521379.3:c.2805dup	XP_011519681.1:p.Lys936GlufsTer4
XM_011521381.2:c.840dup	XP_011519683.1:p.Lys281GlufsTer4
XM_017022015.1:c.840dup	XP_016877504.1:p.Lys281GlufsTer4
XM_024449875.1:c.2805dup	XP_024305643.1:p.Lys936GlufsTer4
XR_001751153.2:n.3756dup
XR_931769.3:n.3756dup
XR_931770.3:n.3756dup
XR_931775.3:n.3756dup
NM_001194998.2:c.2805dup MANE Select	NP_001181927.1:p.Lys936GlufsTer4
NM_014985.4:c.2805dup	NP_055800.2:p.Lys936GlufsTer4