Canonical Allele Identifier: CA2052904565

Gene: CEP290

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88083277_88083278delinsCA , CM000674.2:g.88083277_88083278delinsCA	GRCh38
NC_000012.11:g.88477054_88477055delinsCA , CM000674.1:g.88477054_88477055delinsCA	GRCh37
NC_000012.10:g.87001185_87001186delinsCA	NCBI36
NG_008417.1:g.63939_63940delinsTG
NG_008417.2:g.63939_63940delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.4813-48_4813-47delinsTG	ENSP00000308021.8:n.4813-48_4813-47delinsTG
ENST00000547691.8:c.2097-48_2097-47delinsTG
ENST00000552810.6:c.4813-48_4813-47delinsTG MANE Select	ENSP00000448012.1:n.4813-48_4813-47delinsTG
ENST00000672414.2:c.*2984-48_*2984-47delinsTG	ENSP00000500729.1:n.*2984-48_*2984-47delinsTG
ENST00000672647.1:n.3173-48_3173-47delinsTG
ENST00000673058.2:c.4813-48_4813-47delinsTG	ENSP00000500665.2:n.4813-48_4813-47delinsTG
ENST00000674971.1:c.4813-48_4813-47delinsTG	ENSP00000502194.1:n.4813-48_4813-47delinsTG
ENST00000675230.1:c.4792-48_4792-47delinsTG	ENSP00000502503.1:n.4792-48_4792-47delinsTG
ENST00000675408.1:c.4813-48_4813-47delinsTG	ENSP00000502298.1:n.4813-48_4813-47delinsTG
ENST00000675476.1:c.5674-48_5674-47delinsTG	ENSP00000502161.1:n.5674-48_5674-47delinsTG
ENST00000675628.1:n.5040-48_5040-47delinsTG
ENST00000675794.1:c.*2984-48_*2984-47delinsTG	ENSP00000502841.1:n.*2984-48_*2984-47delinsTG
ENST00000675833.1:c.5581-48_5581-47delinsTG	ENSP00000502559.1:n.5581-48_5581-47delinsTG
ENST00000675894.1:n.1118-48_1118-47delinsTG
ENST00000676074.1:c.4813-48_4813-47delinsTG	ENSP00000502079.1:n.4813-48_4813-47delinsTG
ENST00000676181.1:n.3741-48_3741-47delinsTG
ENST00000676363.1:n.10539-48_10539-47delinsTG
ENST00000676448.1:c.*2726-48_*2726-47delinsTG	ENSP00000501987.1:n.*2726-48_*2726-47delinsTG
ENST00000309041.11:c.4819-48_4819-47delinsTG	ENSP00000308021.7:n.4819-48_4819-47delinsTG
ENST00000547691.6:c.1993-48_1993-47delinsTG	ENSP00000446905.1:n.1993-48_1993-47delinsTG
ENST00000552810.5:c.4813-48_4813-47delinsTG	ENSP00000448012.1:n.4813-48_4813-47delinsTG
NM_025114.3:c.4813-48_4813-47delinsTG	NP_079390.3:n.4813-48_4813-47delinsTG
XM_011538756.1:c.5674-48_5674-47delinsTG	XP_011537058.1:n.5674-48_5674-47delinsTG
XM_011538757.1:c.5674-48_5674-47delinsTG	XP_011537059.1:n.5674-48_5674-47delinsTG
XM_011538758.1:c.5674-48_5674-47delinsTG	XP_011537060.1:n.5674-48_5674-47delinsTG
XM_011538759.1:c.5674-48_5674-47delinsTG	XP_011537061.1:n.5674-48_5674-47delinsTG
XM_011538760.1:c.5674-48_5674-47delinsTG	XP_011537062.1:n.5674-48_5674-47delinsTG
XM_011538761.1:c.5674-48_5674-47delinsTG	XP_011537063.1:n.5674-48_5674-47delinsTG
XM_011538762.1:c.4906-48_4906-47delinsTG	XP_011537064.1:n.4906-48_4906-47delinsTG
XM_011538763.1:c.4813-48_4813-47delinsTG	XP_011537065.1:n.4813-48_4813-47delinsTG
XM_011538764.1:c.5674-48_5674-47delinsTG	XP_011537066.1:n.5674-48_5674-47delinsTG
XM_011538765.1:c.5674-48_5674-47delinsTG	XP_011537067.1:n.5674-48_5674-47delinsTG
XM_011538766.1:c.4135-48_4135-47delinsTG	XP_011537068.1:n.4135-48_4135-47delinsTG
XM_011538756.3:c.5674-48_5674-47delinsTG	XP_011537058.1:n.5674-48_5674-47delinsTG
XM_011538757.3:c.5674-48_5674-47delinsTG	XP_011537059.1:n.5674-48_5674-47delinsTG
XM_011538758.3:c.5674-48_5674-47delinsTG	XP_011537060.1:n.5674-48_5674-47delinsTG
XM_011538759.2:c.5674-48_5674-47delinsTG	XP_011537061.1:n.5674-48_5674-47delinsTG
XM_011538760.2:c.5674-48_5674-47delinsTG	XP_011537062.1:n.5674-48_5674-47delinsTG
XM_011538761.2:c.5674-48_5674-47delinsTG	XP_011537063.1:n.5674-48_5674-47delinsTG
XM_011538762.3:c.4906-48_4906-47delinsTG	XP_011537064.1:n.4906-48_4906-47delinsTG
XM_011538763.3:c.4813-48_4813-47delinsTG	XP_011537065.1:n.4813-48_4813-47delinsTG
XM_011538764.3:c.5674-48_5674-47delinsTG	XP_011537066.1:n.5674-48_5674-47delinsTG
XM_011538765.3:c.5674-48_5674-47delinsTG	XP_011537067.1:n.5674-48_5674-47delinsTG
XM_011538766.3:c.4135-48_4135-47delinsTG	XP_011537068.1:n.4135-48_4135-47delinsTG
XM_017019980.2:c.5674-48_5674-47delinsTG	XP_016875469.1:n.5674-48_5674-47delinsTG
XM_017019981.2:c.5674-48_5674-47delinsTG	XP_016875470.1:n.5674-48_5674-47delinsTG
XM_017019982.1:c.5674-48_5674-47delinsTG	XP_016875471.1:n.5674-48_5674-47delinsTG
XM_017019983.2:c.4792-48_4792-47delinsTG	XP_016875472.1:n.4792-48_4792-47delinsTG
XR_001748869.1:n.6018-48_6018-47delinsTG
XR_001748870.2:n.6018-48_6018-47delinsTG
NM_025114.4:c.4813-48_4813-47delinsTG MANE Select	NP_079390.3:n.4813-48_4813-47delinsTG