Canonical Allele Identifier: CA2527152198

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88089443_88089444insGG , CM000674.2:g.88089443_88089444insGG	GRCh38
NC_000012.11:g.88483220_88483221insGG , CM000674.1:g.88483220_88483221insGG	GRCh37
NC_000012.10:g.87007351_87007352insGG	NCBI36
NG_008417.1:g.57773_57774insCC
NG_008417.2:g.57773_57774insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.3617_3618insCC	ENSP00000308021.8:p.Asn1207LeufsTer7
ENST00000547691.8:c.901_902insCC
ENST00000552810.6:c.3617_3618insCC MANE Select	ENSP00000448012.1:p.Asn1207LeufsTer7
ENST00000672414.2:c.*1788_*1789insCC	ENSP00000500729.1:n.*1788_*1789insCC
ENST00000672647.1:n.1977_1978insCC
ENST00000673058.2:c.3617_3618insCC	ENSP00000500665.2:p.Asn1207LeufsTer7
ENST00000674971.1:c.3617_3618insCC	ENSP00000502194.1:p.Asn1207LeufsTer7
ENST00000675089.1:c.442_443insCC	ENSP00000501582.1:n.442_443insCC
ENST00000675230.1:c.3596_3597insCC	ENSP00000502503.1:p.Asn1200LeufsTer7
ENST00000675408.1:c.3617_3618insCC	ENSP00000502298.1:p.Asn1207LeufsTer7
ENST00000675476.1:c.4478_4479insCC	ENSP00000502161.1:p.Asn1494LeufsTer7
ENST00000675628.1:n.3844_3845insCC
ENST00000675794.1:c.*1788_*1789insCC	ENSP00000502841.1:n.*1788_*1789insCC
ENST00000675833.1:c.4385_4386insCC	ENSP00000502559.1:p.Asn1463LeufsTer7
ENST00000676074.1:c.3617_3618insCC	ENSP00000502079.1:p.Asn1207LeufsTer7
ENST00000676181.1:n.2545_2546insCC
ENST00000676363.1:n.9343_9344insCC
ENST00000676448.1:c.*1530_*1531insCC	ENSP00000501987.1:n.*1530_*1531insCC
ENST00000309041.11:c.3623_3624insCC	ENSP00000308021.7:p.Asn1209LeufsTer7
ENST00000547691.6:c.797_798insCC	ENSP00000446905.1:p.Asn267LeufsTer7
ENST00000552810.5:c.3617_3618insCC	ENSP00000448012.1:p.Asn1207LeufsTer7
NM_025114.3:c.3617_3618insCC	NP_079390.3:p.Asn1207LeufsTer7
XM_011538756.1:c.4478_4479insCC	XP_011537058.1:p.Asn1494LeufsTer7
XM_011538757.1:c.4478_4479insCC	XP_011537059.1:p.Asn1494LeufsTer7
XM_011538758.1:c.4478_4479insCC	XP_011537060.1:p.Asn1494LeufsTer7
XM_011538759.1:c.4478_4479insCC	XP_011537061.1:p.Asn1494LeufsTer7
XM_011538760.1:c.4478_4479insCC	XP_011537062.1:p.Asn1494LeufsTer7
XM_011538761.1:c.4478_4479insCC	XP_011537063.1:p.Asn1494LeufsTer7
XM_011538762.1:c.3710_3711insCC	XP_011537064.1:p.Asn1238LeufsTer7
XM_011538763.1:c.3617_3618insCC	XP_011537065.1:p.Asn1207LeufsTer7
XM_011538764.1:c.4478_4479insCC	XP_011537066.1:p.Asn1494LeufsTer7
XM_011538765.1:c.4478_4479insCC	XP_011537067.1:p.Asn1494LeufsTer7
XM_011538766.1:c.2939_2940insCC	XP_011537068.1:p.Asn981LeufsTer7
XM_011538756.3:c.4478_4479insCC	XP_011537058.1:p.Asn1494LeufsTer7
XM_011538757.3:c.4478_4479insCC	XP_011537059.1:p.Asn1494LeufsTer7
XM_011538758.3:c.4478_4479insCC	XP_011537060.1:p.Asn1494LeufsTer7
XM_011538759.2:c.4478_4479insCC	XP_011537061.1:p.Asn1494LeufsTer7
XM_011538760.2:c.4478_4479insCC	XP_011537062.1:p.Asn1494LeufsTer7
XM_011538761.2:c.4478_4479insCC	XP_011537063.1:p.Asn1494LeufsTer7
XM_011538762.3:c.3710_3711insCC	XP_011537064.1:p.Asn1238LeufsTer7
XM_011538763.3:c.3617_3618insCC	XP_011537065.1:p.Asn1207LeufsTer7
XM_011538764.3:c.4478_4479insCC	XP_011537066.1:p.Asn1494LeufsTer7
XM_011538765.3:c.4478_4479insCC	XP_011537067.1:p.Asn1494LeufsTer7
XM_011538766.3:c.2939_2940insCC	XP_011537068.1:p.Asn981LeufsTer7
XM_017019980.2:c.4478_4479insCC	XP_016875469.1:p.Asn1494LeufsTer7
XM_017019981.2:c.4478_4479insCC	XP_016875470.1:p.Asn1494LeufsTer7
XM_017019982.1:c.4478_4479insCC	XP_016875471.1:p.Asn1494LeufsTer7
XM_017019983.2:c.3596_3597insCC	XP_016875472.1:p.Asn1200LeufsTer7
XR_001748869.1:n.4822_4823insCC
XR_001748870.2:n.4822_4823insCC
NM_025114.4:c.3617_3618insCC MANE Select	NP_079390.3:p.Asn1207LeufsTer7