Canonical Allele Identifier: CA2620107649

Gene: CEP290

Linked Data

• gnomAD v4: 12-88083130-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083133del , CM000674.2:g.88083133del	GRCh38
NC_000012.11:g.88476910del , CM000674.1:g.88476910del	GRCh37
NC_000012.10:g.87001041del	NCBI36
NG_008417.1:g.64086del
NG_008417.2:g.64086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4912del	ENSP00000308021.8:p.Ser1638ProfsTer7
ENST00000547691.8:c.2196del
ENST00000552810.6:c.4912del MANE Select	ENSP00000448012.1:p.Ser1638ProfsTer7
ENST00000672414.2:c.*3083del	ENSP00000500729.1:n.*3083del
ENST00000672647.1:n.3272del
ENST00000673058.2:c.4912del	ENSP00000500665.2:p.Ser1638ProfsTer7
ENST00000674971.1:c.4912del	ENSP00000502194.1:p.Ser1638ProfsTer7
ENST00000675230.1:c.4891del	ENSP00000502503.1:p.Ser1631ProfsTer7
ENST00000675408.1:c.4912del	ENSP00000502298.1:p.Ser1638ProfsTer7
ENST00000675476.1:c.5773del	ENSP00000502161.1:p.Ser1925ProfsTer7
ENST00000675628.1:n.5139del
ENST00000675794.1:c.*3083del	ENSP00000502841.1:n.*3083del
ENST00000675833.1:c.5680del	ENSP00000502559.1:p.Ser1894ProfsTer7
ENST00000675894.1:n.1217del
ENST00000676074.1:c.4912del	ENSP00000502079.1:p.Ser1638ProfsTer7
ENST00000676181.1:n.3840del
ENST00000676363.1:n.10638del
ENST00000676448.1:c.*2825del	ENSP00000501987.1:n.*2825del
ENST00000309041.11:c.4918del	ENSP00000308021.7:p.Ser1640ProfsTer7
ENST00000547691.6:c.2092del	ENSP00000446905.1:p.Ser698ProfsTer7
ENST00000552810.5:c.4912del	ENSP00000448012.1:p.Ser1638ProfsTer7
NM_025114.3:c.4912del	NP_079390.3:p.Ser1638ProfsTer7
XM_011538756.1:c.5773del	XP_011537058.1:p.Ser1925ProfsTer7
XM_011538757.1:c.5773del	XP_011537059.1:p.Ser1925ProfsTer7
XM_011538758.1:c.5773del	XP_011537060.1:p.Ser1925ProfsTer7
XM_011538759.1:c.5773del	XP_011537061.1:p.Ser1925ProfsTer7
XM_011538760.1:c.5773del	XP_011537062.1:p.Ser1925ProfsTer7
XM_011538761.1:c.5773del	XP_011537063.1:p.Ser1925ProfsTer7
XM_011538762.1:c.5005del	XP_011537064.1:p.Ser1669ProfsTer7
XM_011538763.1:c.4912del	XP_011537065.1:p.Ser1638ProfsTer7
XM_011538764.1:c.5773del	XP_011537066.1:p.Ser1925ProfsTer7
XM_011538765.1:c.5773del	XP_011537067.1:p.Ser1925ProfsTer7
XM_011538766.1:c.4234del	XP_011537068.1:p.Ser1412ProfsTer7
XM_011538756.3:c.5773del	XP_011537058.1:p.Ser1925ProfsTer7
XM_011538757.3:c.5773del	XP_011537059.1:p.Ser1925ProfsTer7
XM_011538758.3:c.5773del	XP_011537060.1:p.Ser1925ProfsTer7
XM_011538759.2:c.5773del	XP_011537061.1:p.Ser1925ProfsTer7
XM_011538760.2:c.5773del	XP_011537062.1:p.Ser1925ProfsTer7
XM_011538761.2:c.5773del	XP_011537063.1:p.Ser1925ProfsTer7
XM_011538762.3:c.5005del	XP_011537064.1:p.Ser1669ProfsTer7
XM_011538763.3:c.4912del	XP_011537065.1:p.Ser1638ProfsTer7
XM_011538764.3:c.5773del	XP_011537066.1:p.Ser1925ProfsTer7
XM_011538765.3:c.5773del	XP_011537067.1:p.Ser1925ProfsTer7
XM_011538766.3:c.4234del	XP_011537068.1:p.Ser1412ProfsTer7
XM_017019980.2:c.5773del	XP_016875469.1:p.Ser1925ProfsTer7
XM_017019981.2:c.5773del	XP_016875470.1:p.Ser1925ProfsTer7
XM_017019982.1:c.5773del	XP_016875471.1:p.Ser1925ProfsTer7
XM_017019983.2:c.4891del	XP_016875472.1:p.Ser1631ProfsTer7
XR_001748869.1:n.6117del
XR_001748870.2:n.6117del
NM_025114.4:c.4912del MANE Select	NP_079390.3:p.Ser1638ProfsTer7