Canonical Allele Identifier: CA241152954

Gene: CEP290

Linked Data

• dbSNP Id: rs754124256
• gnomAD v2: 12-88470901-CATCA-C
• gnomAD v3: 12-88077124-CATCA-C
• gnomAD v4: 12-88077124-CATCA-C
• MyVariant Identifiers: chr12:g.88470902_88470905del (hg19) ; chr12:g.88077125_88077128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88077126_88077129del , CM000674.2:g.88077126_88077129del	GRCh38
NC_000012.11:g.88470903_88470906del , CM000674.1:g.88470903_88470906del	GRCh37
NC_000012.10:g.86995034_86995037del	NCBI36
NG_008417.1:g.70089_70092del
NG_008417.2:g.70089_70092del

Transcript Alleles

HGVS	Amino-acid change
ENST00000309041.12:c.5709+94_5709+97del	ENSP00000308021.8:n.5709+94_5709+97del
ENST00000547691.8:c.2993+94_2993+97del
ENST00000552810.6:c.5709+94_5709+97del MANE Select	ENSP00000448012.1:n.5709+94_5709+97del
ENST00000672414.2:c.*3880+94_*3880+97del	ENSP00000500729.1:n.*3880+94_*3880+97del
ENST00000672647.1:n.4069+94_4069+97del
ENST00000673058.2:c.5709+94_5709+97del	ENSP00000500665.2:n.5709+94_5709+97del
ENST00000674971.1:c.5709+94_5709+97del	ENSP00000502194.1:n.5709+94_5709+97del
ENST00000675230.1:c.5688+94_5688+97del	ENSP00000502503.1:n.5688+94_5688+97del
ENST00000675408.1:c.5709+94_5709+97del	ENSP00000502298.1:n.5709+94_5709+97del
ENST00000675476.1:c.6570+94_6570+97del	ENSP00000502161.1:n.6570+94_6570+97del
ENST00000675628.1:n.5936+94_5936+97del
ENST00000675794.1:c.*3880+94_*3880+97del	ENSP00000502841.1:n.*3880+94_*3880+97del
ENST00000675833.1:c.6477+94_6477+97del	ENSP00000502559.1:n.6477+94_6477+97del
ENST00000675894.1:n.2014+94_2014+97del
ENST00000676074.1:c.5709+94_5709+97del	ENSP00000502079.1:n.5709+94_5709+97del
ENST00000676181.1:n.4637+94_4637+97del
ENST00000676363.1:n.11435+94_11435+97del
ENST00000676448.1:c.*3622+94_*3622+97del	ENSP00000501987.1:n.*3622+94_*3622+97del
ENST00000309041.11:c.5715+94_5715+97del	ENSP00000308021.7:n.5715+94_5715+97del
ENST00000547691.6:c.2889+94_2889+97del	ENSP00000446905.1:n.2889+94_2889+97del
ENST00000552810.5:c.5709+94_5709+97del	ENSP00000448012.1:n.5709+94_5709+97del
NM_025114.3:c.5709+94_5709+97del	NP_079390.3:n.5709+94_5709+97del
XM_011538756.1:c.6570+94_6570+97del	XP_011537058.1:n.6570+94_6570+97del
XM_011538757.1:c.6570+94_6570+97del	XP_011537059.1:n.6570+94_6570+97del
XM_011538758.1:c.6570+94_6570+97del	XP_011537060.1:n.6570+94_6570+97del
XM_011538759.1:c.6570+94_6570+97del	XP_011537061.1:n.6570+94_6570+97del
XM_011538760.1:c.6570+94_6570+97del	XP_011537062.1:n.6570+94_6570+97del
XM_011538761.1:c.6570+94_6570+97del	XP_011537063.1:n.6570+94_6570+97del
XM_011538762.1:c.5802+94_5802+97del	XP_011537064.1:n.5802+94_5802+97del
XM_011538763.1:c.5709+94_5709+97del	XP_011537065.1:n.5709+94_5709+97del
XM_011538764.1:c.6570+94_6570+97del	XP_011537066.1:n.6570+94_6570+97del
XM_011538765.1:c.6570+94_6570+97del	XP_011537067.1:n.6570+94_6570+97del
XM_011538766.1:c.5031+94_5031+97del	XP_011537068.1:n.5031+94_5031+97del
XR_945163.1:n.968-5187_968-5184del
XM_011538756.3:c.6570+94_6570+97del	XP_011537058.1:n.6570+94_6570+97del
XM_011538757.3:c.6570+94_6570+97del	XP_011537059.1:n.6570+94_6570+97del
XM_011538758.3:c.6570+94_6570+97del	XP_011537060.1:n.6570+94_6570+97del
XM_011538759.2:c.6570+94_6570+97del	XP_011537061.1:n.6570+94_6570+97del
XM_011538760.2:c.6570+94_6570+97del	XP_011537062.1:n.6570+94_6570+97del
XM_011538761.2:c.6570+94_6570+97del	XP_011537063.1:n.6570+94_6570+97del
XM_011538762.3:c.5802+94_5802+97del	XP_011537064.1:n.5802+94_5802+97del
XM_011538763.3:c.5709+94_5709+97del	XP_011537065.1:n.5709+94_5709+97del
XM_011538764.3:c.6570+94_6570+97del	XP_011537066.1:n.6570+94_6570+97del
XM_011538765.3:c.6570+94_6570+97del	XP_011537067.1:n.6570+94_6570+97del
XM_011538766.3:c.5031+94_5031+97del	XP_011537068.1:n.5031+94_5031+97del
XM_017019980.2:c.6570+94_6570+97del	XP_016875469.1:n.6570+94_6570+97del
XM_017019981.2:c.6570+94_6570+97del	XP_016875470.1:n.6570+94_6570+97del
XM_017019982.1:c.6570+94_6570+97del	XP_016875471.1:n.6570+94_6570+97del
XM_017019983.2:c.5688+94_5688+97del	XP_016875472.1:n.5688+94_5688+97del
XR_001748869.1:n.6914+94_6914+97del
XR_001748870.2:n.6914+94_6914+97del
NM_025114.4:c.5709+94_5709+97del MANE Select	NP_079390.3:n.5709+94_5709+97del