Canonical Allele Identifier: CA2052907546

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88062771_88062778delinsACTTGATT , CM000674.2:g.88062771_88062778delinsACTTGATT	GRCh38
NC_000012.11:g.88456548_88456555delinsACTTGATT , CM000674.1:g.88456548_88456555delinsACTTGATT	GRCh37
NC_000012.10:g.86980679_86980686delinsACTTGATT	NCBI36
NG_008417.1:g.84439_84446delinsAATCAAGT
NG_008417.2:g.84439_84446delinsAATCAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.6280_6287delinsAATCAAGT	ENSP00000308021.8:p.Asn2094=
ENST00000547691.8:c.3555_3562delinsAATCAAGT
ENST00000552810.6:c.6271_6278delinsAATCAAGT MANE Select	ENSP00000448012.1:p.Asn2091=
ENST00000672414.2:c.*4442_*4449delinsAATCAAGT	ENSP00000500729.1:n.*4442_*4449delinsAATCAAGT
ENST00000672647.1:n.4631_4638delinsAATCAAGT
ENST00000673058.2:c.6271_6278delinsAATCAAGT	ENSP00000500665.2:p.Asn2091=
ENST00000674889.1:n.3224_3231delinsAATCAAGT
ENST00000674971.1:c.6271_6278delinsAATCAAGT	ENSP00000502194.1:p.Asn2091=
ENST00000675230.1:c.6250_6257delinsAATCAAGT	ENSP00000502503.1:p.Asn2084=
ENST00000675408.1:c.6271_6278delinsAATCAAGT	ENSP00000502298.1:p.Asn2091=
ENST00000675476.1:c.7132_7139delinsAATCAAGT	ENSP00000502161.1:p.Asn2378=
ENST00000675628.1:n.6498_6505delinsAATCAAGT
ENST00000675794.1:c.*4442_*4449delinsAATCAAGT	ENSP00000502841.1:n.*4442_*4449delinsAATCAAGT
ENST00000675833.1:c.7039_7046delinsAATCAAGT	ENSP00000502559.1:p.Asn2347=
ENST00000675894.1:n.2576_2583delinsAATCAAGT
ENST00000676074.1:c.6271_6278delinsAATCAAGT	ENSP00000502079.1:p.Asn2091=
ENST00000676181.1:n.5199_5206delinsAATCAAGT
ENST00000676190.1:n.710_717delinsAATCAAGT
ENST00000676363.1:n.11997_12004delinsAATCAAGT
ENST00000309041.11:c.6277_6284delinsAATCAAGT	ENSP00000308021.7:p.Asn2093=
ENST00000547691.6:c.3451_3458delinsAATCAAGT	ENSP00000446905.1:p.Asn1151=
ENST00000552810.5:c.6271_6278delinsAATCAAGT	ENSP00000448012.1:p.Asn2091=
NM_025114.3:c.6271_6278delinsAATCAAGT	NP_079390.3:p.Asn2091=
XM_011538756.1:c.7141_7148delinsAATCAAGT	XP_011537058.1:p.Asn2381=
XM_011538757.1:c.7141_7148delinsAATCAAGT	XP_011537059.1:p.Asn2381=
XM_011538758.1:c.7138_7145delinsAATCAAGT	XP_011537060.1:p.Asn2380=
XM_011538759.1:c.7132_7139delinsAATCAAGT	XP_011537061.1:p.Asn2378=
XM_011538760.1:c.7141_7148delinsAATCAAGT	XP_011537062.1:p.Asn2381=
XM_011538761.1:c.7141_7148delinsAATCAAGT	XP_011537063.1:p.Asn2381=
XM_011538762.1:c.6373_6380delinsAATCAAGT	XP_011537064.1:p.Asn2125=
XM_011538763.1:c.6280_6287delinsAATCAAGT	XP_011537065.1:p.Asn2094=
XM_011538766.1:c.5602_5609delinsAATCAAGT	XP_011537068.1:p.Asn1868=
XR_945163.1:n.967+5751_967+5758delinsACTTGATT
XM_011538756.3:c.7141_7148delinsAATCAAGT	XP_011537058.1:p.Asn2381=
XM_011538757.3:c.7141_7148delinsAATCAAGT	XP_011537059.1:p.Asn2381=
XM_011538758.3:c.7138_7145delinsAATCAAGT	XP_011537060.1:p.Asn2380=
XM_011538759.2:c.7132_7139delinsAATCAAGT	XP_011537061.1:p.Asn2378=
XM_011538760.2:c.7141_7148delinsAATCAAGT	XP_011537062.1:p.Asn2381=
XM_011538761.2:c.7141_7148delinsAATCAAGT	XP_011537063.1:p.Asn2381=
XM_011538762.3:c.6373_6380delinsAATCAAGT	XP_011537064.1:p.Asn2125=
XM_011538763.3:c.6280_6287delinsAATCAAGT	XP_011537065.1:p.Asn2094=
XM_011538766.3:c.5602_5609delinsAATCAAGT	XP_011537068.1:p.Asn1868=
XM_017019980.2:c.7132_7139delinsAATCAAGT	XP_016875469.1:p.Asn2378=
XM_017019981.2:c.7132_7139delinsAATCAAGT	XP_016875470.1:p.Asn2378=
XM_017019982.1:c.7141_7148delinsAATCAAGT	XP_016875471.1:p.Asn2381=
XM_017019983.2:c.6259_6266delinsAATCAAGT	XP_016875472.1:p.Asn2087=
XR_001748869.1:n.7476_7483delinsAATCAAGT
XR_001748870.2:n.7476_7483delinsAATCAAGT
NM_025114.4:c.6271_6278delinsAATCAAGT MANE Select	NP_079390.3:p.Asn2091=