Canonical Allele Identifier: CA7548400

Gene: CEP152

Linked Data

• ClinVar Variation Id: 503918
• ClinVar RCV Id: RCV000598758 ; RCV001507255 ; RCV003420052
• dbSNP Id: rs754267846
• ExAC: 15:49048195 CA / C
• gnomAD v2: 15-49048195-CA-C
• gnomAD v3: 15-48755998-CA-C
• gnomAD v4: 15-48755998-CA-C
• MyVariant Identifiers: chr15:g.49048196del (hg19) ; chr15:g.48755999del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48755999del , CM000677.2:g.48755999del	GRCh38
NC_000015.9:g.49048196del , CM000677.1:g.49048196del	GRCh37
NC_000015.8:g.46835488del	NCBI36
NG_027518.1:g.60148del
NG_027518.2:g.60148del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380950.7:c.3249del MANE Select	ENSP00000370337.2:p.Val1084CysfsTer7
ENST00000325747.9:c.2970del	ENSP00000321000.5:p.Val991CysfsTer7
ENST00000380950.6:c.3249del	ENSP00000370337.2:p.Val1084CysfsTer7
ENST00000399334.7:c.3249del	ENSP00000382271.3:p.Val1084CysfsTer7
NM_001194998.1:c.3249del	NP_001181927.1:p.Val1084CysfsTer7
NM_014985.3:c.3249del	NP_055800.2:p.Val1084CysfsTer7
XM_006720437.2:c.3249del	XP_006720500.1:p.Val1084CysfsTer7
XM_011521373.1:c.3249del	XP_011519675.1:p.Val1084CysfsTer7
XM_011521374.1:c.3249del	XP_011519676.1:p.Val1084CysfsTer7
XM_011521375.1:c.3249del	XP_011519677.1:p.Val1084CysfsTer7
XM_011521376.1:c.3249del	XP_011519678.1:p.Val1084CysfsTer7
XM_011521377.1:c.3249del	XP_011519679.1:p.Val1084CysfsTer7
XM_011521378.1:c.3249del	XP_011519680.1:p.Val1084CysfsTer7
XM_011521379.1:c.3249del	XP_011519681.1:p.Val1084CysfsTer7
XM_011521380.1:c.1290del	XP_011519682.1:p.Val431CysfsTer7
XM_011521381.1:c.1284del	XP_011519683.1:p.Val429CysfsTer7
XR_931769.1:n.4214del
XR_931770.1:n.4214del
XR_931771.1:n.4214del
XR_931772.1:n.4214del
XR_931773.1:n.4214del
XR_931774.1:n.4214del
XR_931775.1:n.4214del
XM_006720437.3:c.3249del	XP_006720500.1:p.Val1084CysfsTer7
XM_011521373.3:c.3249del	XP_011519675.1:p.Val1084CysfsTer7
XM_011521374.3:c.3249del	XP_011519676.1:p.Val1084CysfsTer7
XM_011521375.3:c.3249del	XP_011519677.1:p.Val1084CysfsTer7
XM_011521378.3:c.3249del	XP_011519680.1:p.Val1084CysfsTer7
XM_011521379.3:c.3249del	XP_011519681.1:p.Val1084CysfsTer7
XM_011521381.2:c.1284del	XP_011519683.1:p.Val429CysfsTer7
XM_017022015.1:c.1284del	XP_016877504.1:p.Val429CysfsTer7
XM_024449875.1:c.3249del	XP_024305643.1:p.Val1084CysfsTer7
XR_001751153.2:n.4200del
XR_931769.3:n.4200del
XR_931770.3:n.4200del
XR_931775.3:n.4200del
NM_001194998.2:c.3249del MANE Select	NP_001181927.1:p.Val1084CysfsTer7
NM_014985.4:c.3249del	NP_055800.2:p.Val1084CysfsTer7