Canonical Allele Identifier: CA2580616846

Gene: CEP290

Linked Data

• ClinVar Variation Id: 2023926
• ClinVar RCV Id: RCV002862935
• gnomAD v4: 12-88083943-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083947_88083948del , CM000674.2:g.88083947_88083948del	GRCh38
NC_000012.11:g.88477724_88477725del , CM000674.1:g.88477724_88477725del	GRCh37
NC_000012.10:g.87001855_87001856del	NCBI36
NG_008417.1:g.63272_63273del
NG_008417.2:g.63272_63273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4714_4715del	ENSP00000308021.8:p.Glu1572AsnfsTer6
ENST00000547691.8:c.1998_1999del
ENST00000552810.6:c.4714_4715del MANE Select	ENSP00000448012.1:p.Glu1572AsnfsTer6
ENST00000672414.2:c.*2885_*2886del	ENSP00000500729.1:n.*2885_*2886del
ENST00000672647.1:n.3074_3075del
ENST00000673058.2:c.4714_4715del	ENSP00000500665.2:p.Glu1572AsnfsTer6
ENST00000674971.1:c.4714_4715del	ENSP00000502194.1:p.Glu1572AsnfsTer6
ENST00000675230.1:c.4693_4694del	ENSP00000502503.1:p.Glu1565AsnfsTer6
ENST00000675408.1:c.4714_4715del	ENSP00000502298.1:p.Glu1572AsnfsTer6
ENST00000675476.1:c.5575_5576del	ENSP00000502161.1:p.Glu1859AsnfsTer6
ENST00000675628.1:n.4941_4942del
ENST00000675794.1:c.*2885_*2886del	ENSP00000502841.1:n.*2885_*2886del
ENST00000675833.1:c.5482_5483del	ENSP00000502559.1:p.Glu1828AsnfsTer6
ENST00000675894.1:n.1019_1020del
ENST00000676074.1:c.4714_4715del	ENSP00000502079.1:p.Glu1572AsnfsTer6
ENST00000676181.1:n.3642_3643del
ENST00000676363.1:n.10440_10441del
ENST00000676448.1:c.*2627_*2628del	ENSP00000501987.1:n.*2627_*2628del
ENST00000309041.11:c.4720_4721del	ENSP00000308021.7:p.Glu1574AsnfsTer6
ENST00000547691.6:c.1894_1895del	ENSP00000446905.1:p.Glu632AsnfsTer6
ENST00000552810.5:c.4714_4715del	ENSP00000448012.1:p.Glu1572AsnfsTer6
NM_025114.3:c.4714_4715del	NP_079390.3:p.Glu1572AsnfsTer6
XM_011538756.1:c.5575_5576del	XP_011537058.1:p.Glu1859AsnfsTer6
XM_011538757.1:c.5575_5576del	XP_011537059.1:p.Glu1859AsnfsTer6
XM_011538758.1:c.5575_5576del	XP_011537060.1:p.Glu1859AsnfsTer6
XM_011538759.1:c.5575_5576del	XP_011537061.1:p.Glu1859AsnfsTer6
XM_011538760.1:c.5575_5576del	XP_011537062.1:p.Glu1859AsnfsTer6
XM_011538761.1:c.5575_5576del	XP_011537063.1:p.Glu1859AsnfsTer6
XM_011538762.1:c.4807_4808del	XP_011537064.1:p.Glu1603AsnfsTer6
XM_011538763.1:c.4714_4715del	XP_011537065.1:p.Glu1572AsnfsTer6
XM_011538764.1:c.5575_5576del	XP_011537066.1:p.Glu1859AsnfsTer6
XM_011538765.1:c.5575_5576del	XP_011537067.1:p.Glu1859AsnfsTer6
XM_011538766.1:c.4036_4037del	XP_011537068.1:p.Glu1346AsnfsTer6
XM_011538756.3:c.5575_5576del	XP_011537058.1:p.Glu1859AsnfsTer6
XM_011538757.3:c.5575_5576del	XP_011537059.1:p.Glu1859AsnfsTer6
XM_011538758.3:c.5575_5576del	XP_011537060.1:p.Glu1859AsnfsTer6
XM_011538759.2:c.5575_5576del	XP_011537061.1:p.Glu1859AsnfsTer6
XM_011538760.2:c.5575_5576del	XP_011537062.1:p.Glu1859AsnfsTer6
XM_011538761.2:c.5575_5576del	XP_011537063.1:p.Glu1859AsnfsTer6
XM_011538762.3:c.4807_4808del	XP_011537064.1:p.Glu1603AsnfsTer6
XM_011538763.3:c.4714_4715del	XP_011537065.1:p.Glu1572AsnfsTer6
XM_011538764.3:c.5575_5576del	XP_011537066.1:p.Glu1859AsnfsTer6
XM_011538765.3:c.5575_5576del	XP_011537067.1:p.Glu1859AsnfsTer6
XM_011538766.3:c.4036_4037del	XP_011537068.1:p.Glu1346AsnfsTer6
XM_017019980.2:c.5575_5576del	XP_016875469.1:p.Glu1859AsnfsTer6
XM_017019981.2:c.5575_5576del	XP_016875470.1:p.Glu1859AsnfsTer6
XM_017019982.1:c.5575_5576del	XP_016875471.1:p.Glu1859AsnfsTer6
XM_017019983.2:c.4693_4694del	XP_016875472.1:p.Glu1565AsnfsTer6
XR_001748869.1:n.5919_5920del
XR_001748870.2:n.5919_5920del
NM_025114.4:c.4714_4715del MANE Select	NP_079390.3:p.Glu1572AsnfsTer6