Canonical Allele Identifier: CA2628343373

Gene: CEP152

Linked Data

• gnomAD v4: 15-48756108-AGGATGTCTTCCTCATACTGATAGATTTCCAGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48756113_48756145del , CM000677.2:g.48756113_48756145del	GRCh38
NC_000015.9:g.49048310_49048342del , CM000677.1:g.49048310_49048342del	GRCh37
NC_000015.8:g.46835602_46835634del	NCBI36
NG_027518.1:g.60006_60038del
NG_027518.2:g.60006_60038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380950.7:c.3107_3139del MANE Select	ENSP00000370337.2:p.Gln1036_Ile1046del
ENST00000325747.9:c.2828_2860del	ENSP00000321000.5:p.Gln943_Ile953del
ENST00000380950.6:c.3107_3139del	ENSP00000370337.2:p.Gln1036_Ile1046del
ENST00000399334.7:c.3107_3139del	ENSP00000382271.3:p.Gln1036_Ile1046del
NM_001194998.1:c.3107_3139del	NP_001181927.1:p.Gln1036_Ile1046del
NM_014985.3:c.3107_3139del	NP_055800.2:p.Gln1036_Ile1046del
XM_006720437.2:c.3107_3139del	XP_006720500.1:p.Gln1036_Ile1046del
XM_011521373.1:c.3107_3139del	XP_011519675.1:p.Gln1036_Ile1046del
XM_011521374.1:c.3107_3139del	XP_011519676.1:p.Gln1036_Ile1046del
XM_011521375.1:c.3107_3139del	XP_011519677.1:p.Gln1036_Ile1046del
XM_011521376.1:c.3107_3139del	XP_011519678.1:p.Gln1036_Ile1046del
XM_011521377.1:c.3107_3139del	XP_011519679.1:p.Gln1036_Ile1046del
XM_011521378.1:c.3107_3139del	XP_011519680.1:p.Gln1036_Ile1046del
XM_011521379.1:c.3107_3139del	XP_011519681.1:p.Gln1036_Ile1046del
XM_011521380.1:c.1148_1180del	XP_011519682.1:p.Gln383_Ile393del
XM_011521381.1:c.1142_1174del	XP_011519683.1:p.Gln381_Ile391del
XR_931769.1:n.4072_4104del
XR_931770.1:n.4072_4104del
XR_931771.1:n.4072_4104del
XR_931772.1:n.4072_4104del
XR_931773.1:n.4072_4104del
XR_931774.1:n.4072_4104del
XR_931775.1:n.4072_4104del
XM_006720437.3:c.3107_3139del	XP_006720500.1:p.Gln1036_Ile1046del
XM_011521373.3:c.3107_3139del	XP_011519675.1:p.Gln1036_Ile1046del
XM_011521374.3:c.3107_3139del	XP_011519676.1:p.Gln1036_Ile1046del
XM_011521375.3:c.3107_3139del	XP_011519677.1:p.Gln1036_Ile1046del
XM_011521378.3:c.3107_3139del	XP_011519680.1:p.Gln1036_Ile1046del
XM_011521379.3:c.3107_3139del	XP_011519681.1:p.Gln1036_Ile1046del
XM_011521381.2:c.1142_1174del	XP_011519683.1:p.Gln381_Ile391del
XM_017022015.1:c.1142_1174del	XP_016877504.1:p.Gln381_Ile391del
XM_024449875.1:c.3107_3139del	XP_024305643.1:p.Gln1036_Ile1046del
XR_001751153.2:n.4058_4090del
XR_931769.3:n.4058_4090del
XR_931770.3:n.4058_4090del
XR_931775.3:n.4058_4090del
NM_001194998.2:c.3107_3139del MANE Select	NP_001181927.1:p.Gln1036_Ile1046del
NM_014985.4:c.3107_3139del	NP_055800.2:p.Gln1036_Ile1046del