Canonical Allele Identifier: CA2620107960

Gene: CEP290

Linked Data

• gnomAD v4: 12-88083216-CTGTTTCATTAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083218_88083229del , CM000674.2:g.88083218_88083229del	GRCh38
NC_000012.11:g.88476995_88477006del , CM000674.1:g.88476995_88477006del	GRCh37
NC_000012.10:g.87001126_87001137del	NCBI36
NG_008417.1:g.63989_64000del
NG_008417.2:g.63989_64000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4815_4826del	ENSP00000308021.8:p.Asp1605_Gln1609delinsGlu
ENST00000547691.8:c.2099_2110del
ENST00000552810.6:c.4815_4826del MANE Select	ENSP00000448012.1:p.Asp1605_Gln1609delinsGlu
ENST00000672414.2:c.*2986_*2997del	ENSP00000500729.1:n.*2986_*2997del
ENST00000672647.1:n.3175_3186del
ENST00000673058.2:c.4815_4826del	ENSP00000500665.2:p.Asp1605_Gln1609delinsGlu
ENST00000674971.1:c.4815_4826del	ENSP00000502194.1:p.Asp1605_Gln1609delinsGlu
ENST00000675230.1:c.4794_4805del	ENSP00000502503.1:p.Asp1598_Gln1602delinsGlu
ENST00000675408.1:c.4815_4826del	ENSP00000502298.1:p.Asp1605_Gln1609delinsGlu
ENST00000675476.1:c.5676_5687del	ENSP00000502161.1:p.Asp1892_Gln1896delinsGlu
ENST00000675628.1:n.5042_5053del
ENST00000675794.1:c.*2986_*2997del	ENSP00000502841.1:n.*2986_*2997del
ENST00000675833.1:c.5583_5594del	ENSP00000502559.1:p.Asp1861_Gln1865delinsGlu
ENST00000675894.1:n.1120_1131del
ENST00000676074.1:c.4815_4826del	ENSP00000502079.1:p.Asp1605_Gln1609delinsGlu
ENST00000676181.1:n.3743_3754del
ENST00000676363.1:n.10541_10552del
ENST00000676448.1:c.*2728_*2739del	ENSP00000501987.1:n.*2728_*2739del
ENST00000309041.11:c.4821_4832del	ENSP00000308021.7:p.Asp1607_Gln1611delinsGlu
ENST00000547691.6:c.1995_2006del	ENSP00000446905.1:p.Asp665_Gln669delinsGlu
ENST00000552810.5:c.4815_4826del	ENSP00000448012.1:p.Asp1605_Gln1609delinsGlu
NM_025114.3:c.4815_4826del	NP_079390.3:p.Asp1605_Gln1609delinsGlu
XM_011538756.1:c.5676_5687del	XP_011537058.1:p.Asp1892_Gln1896delinsGlu
XM_011538757.1:c.5676_5687del	XP_011537059.1:p.Asp1892_Gln1896delinsGlu
XM_011538758.1:c.5676_5687del	XP_011537060.1:p.Asp1892_Gln1896delinsGlu
XM_011538759.1:c.5676_5687del	XP_011537061.1:p.Asp1892_Gln1896delinsGlu
XM_011538760.1:c.5676_5687del	XP_011537062.1:p.Asp1892_Gln1896delinsGlu
XM_011538761.1:c.5676_5687del	XP_011537063.1:p.Asp1892_Gln1896delinsGlu
XM_011538762.1:c.4908_4919del	XP_011537064.1:p.Asp1636_Gln1640delinsGlu
XM_011538763.1:c.4815_4826del	XP_011537065.1:p.Asp1605_Gln1609delinsGlu
XM_011538764.1:c.5676_5687del	XP_011537066.1:p.Asp1892_Gln1896delinsGlu
XM_011538765.1:c.5676_5687del	XP_011537067.1:p.Asp1892_Gln1896delinsGlu
XM_011538766.1:c.4137_4148del	XP_011537068.1:p.Asp1379_Gln1383delinsGlu
XM_011538756.3:c.5676_5687del	XP_011537058.1:p.Asp1892_Gln1896delinsGlu
XM_011538757.3:c.5676_5687del	XP_011537059.1:p.Asp1892_Gln1896delinsGlu
XM_011538758.3:c.5676_5687del	XP_011537060.1:p.Asp1892_Gln1896delinsGlu
XM_011538759.2:c.5676_5687del	XP_011537061.1:p.Asp1892_Gln1896delinsGlu
XM_011538760.2:c.5676_5687del	XP_011537062.1:p.Asp1892_Gln1896delinsGlu
XM_011538761.2:c.5676_5687del	XP_011537063.1:p.Asp1892_Gln1896delinsGlu
XM_011538762.3:c.4908_4919del	XP_011537064.1:p.Asp1636_Gln1640delinsGlu
XM_011538763.3:c.4815_4826del	XP_011537065.1:p.Asp1605_Gln1609delinsGlu
XM_011538764.3:c.5676_5687del	XP_011537066.1:p.Asp1892_Gln1896delinsGlu
XM_011538765.3:c.5676_5687del	XP_011537067.1:p.Asp1892_Gln1896delinsGlu
XM_011538766.3:c.4137_4148del	XP_011537068.1:p.Asp1379_Gln1383delinsGlu
XM_017019980.2:c.5676_5687del	XP_016875469.1:p.Asp1892_Gln1896delinsGlu
XM_017019981.2:c.5676_5687del	XP_016875470.1:p.Asp1892_Gln1896delinsGlu
XM_017019982.1:c.5676_5687del	XP_016875471.1:p.Asp1892_Gln1896delinsGlu
XM_017019983.2:c.4794_4805del	XP_016875472.1:p.Asp1598_Gln1602delinsGlu
XR_001748869.1:n.6020_6031del
XR_001748870.2:n.6020_6031del
NM_025114.4:c.4815_4826del MANE Select	NP_079390.3:p.Asp1605_Gln1609delinsGlu