Canonical Allele Identifier: CA606453508

Gene: CEP290

Linked Data

• dbSNP Id: rs1337821733
• gnomAD v2: 12-88470877-AATAC-A
• gnomAD v3: 12-88077100-AATAC-A
• gnomAD v4: 12-88077100-AATAC-A
• MyVariant Identifiers: chr12:g.88470878_88470881del (hg19) ; chr12:g.88077101_88077104del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88077102_88077105del , CM000674.2:g.88077102_88077105del	GRCh38
NC_000012.11:g.88470879_88470882del , CM000674.1:g.88470879_88470882del	GRCh37
NC_000012.10:g.86995010_86995013del	NCBI36
NG_008417.1:g.70113_70116del
NG_008417.2:g.70113_70116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309041.12:c.5709+118_5709+121del	ENSP00000308021.8:n.5709+118_5709+121del
ENST00000547691.8:c.2993+118_2993+121del
ENST00000552810.6:c.5709+118_5709+121del MANE Select	ENSP00000448012.1:n.5709+118_5709+121del
ENST00000672414.2:c.*3880+118_*3880+121del	ENSP00000500729.1:n.*3880+118_*3880+121del
ENST00000672647.1:n.4069+118_4069+121del
ENST00000673058.2:c.5709+118_5709+121del	ENSP00000500665.2:n.5709+118_5709+121del
ENST00000674971.1:c.5709+118_5709+121del	ENSP00000502194.1:n.5709+118_5709+121del
ENST00000675230.1:c.5688+118_5688+121del	ENSP00000502503.1:n.5688+118_5688+121del
ENST00000675408.1:c.5709+118_5709+121del	ENSP00000502298.1:n.5709+118_5709+121del
ENST00000675476.1:c.6570+118_6570+121del	ENSP00000502161.1:n.6570+118_6570+121del
ENST00000675628.1:n.5936+118_5936+121del
ENST00000675794.1:c.*3880+118_*3880+121del	ENSP00000502841.1:n.*3880+118_*3880+121del
ENST00000675833.1:c.6477+118_6477+121del	ENSP00000502559.1:n.6477+118_6477+121del
ENST00000675894.1:n.2014+118_2014+121del
ENST00000676074.1:c.5709+118_5709+121del	ENSP00000502079.1:n.5709+118_5709+121del
ENST00000676181.1:n.4637+118_4637+121del
ENST00000676363.1:n.11435+118_11435+121del
ENST00000676448.1:c.*3622+118_*3622+121del	ENSP00000501987.1:n.*3622+118_*3622+121del
ENST00000309041.11:c.5715+118_5715+121del	ENSP00000308021.7:n.5715+118_5715+121del
ENST00000547691.6:c.2889+118_2889+121del	ENSP00000446905.1:n.2889+118_2889+121del
ENST00000552810.5:c.5709+118_5709+121del	ENSP00000448012.1:n.5709+118_5709+121del
NM_025114.3:c.5709+118_5709+121del	NP_079390.3:n.5709+118_5709+121del
XM_011538756.1:c.6570+118_6570+121del	XP_011537058.1:n.6570+118_6570+121del
XM_011538757.1:c.6570+118_6570+121del	XP_011537059.1:n.6570+118_6570+121del
XM_011538758.1:c.6570+118_6570+121del	XP_011537060.1:n.6570+118_6570+121del
XM_011538759.1:c.6570+118_6570+121del	XP_011537061.1:n.6570+118_6570+121del
XM_011538760.1:c.6570+118_6570+121del	XP_011537062.1:n.6570+118_6570+121del
XM_011538761.1:c.6570+118_6570+121del	XP_011537063.1:n.6570+118_6570+121del
XM_011538762.1:c.5802+118_5802+121del	XP_011537064.1:n.5802+118_5802+121del
XM_011538763.1:c.5709+118_5709+121del	XP_011537065.1:n.5709+118_5709+121del
XM_011538764.1:c.6570+118_6570+121del	XP_011537066.1:n.6570+118_6570+121del
XM_011538765.1:c.6570+118_6570+121del	XP_011537067.1:n.6570+118_6570+121del
XM_011538766.1:c.5031+118_5031+121del	XP_011537068.1:n.5031+118_5031+121del
XR_945163.1:n.968-5211_968-5208del
XM_011538756.3:c.6570+118_6570+121del	XP_011537058.1:n.6570+118_6570+121del
XM_011538757.3:c.6570+118_6570+121del	XP_011537059.1:n.6570+118_6570+121del
XM_011538758.3:c.6570+118_6570+121del	XP_011537060.1:n.6570+118_6570+121del
XM_011538759.2:c.6570+118_6570+121del	XP_011537061.1:n.6570+118_6570+121del
XM_011538760.2:c.6570+118_6570+121del	XP_011537062.1:n.6570+118_6570+121del
XM_011538761.2:c.6570+118_6570+121del	XP_011537063.1:n.6570+118_6570+121del
XM_011538762.3:c.5802+118_5802+121del	XP_011537064.1:n.5802+118_5802+121del
XM_011538763.3:c.5709+118_5709+121del	XP_011537065.1:n.5709+118_5709+121del
XM_011538764.3:c.6570+118_6570+121del	XP_011537066.1:n.6570+118_6570+121del
XM_011538765.3:c.6570+118_6570+121del	XP_011537067.1:n.6570+118_6570+121del
XM_011538766.3:c.5031+118_5031+121del	XP_011537068.1:n.5031+118_5031+121del
XM_017019980.2:c.6570+118_6570+121del	XP_016875469.1:n.6570+118_6570+121del
XM_017019981.2:c.6570+118_6570+121del	XP_016875470.1:n.6570+118_6570+121del
XM_017019982.1:c.6570+118_6570+121del	XP_016875471.1:n.6570+118_6570+121del
XM_017019983.2:c.5688+118_5688+121del	XP_016875472.1:n.5688+118_5688+121del
XR_001748869.1:n.6914+118_6914+121del
XR_001748870.2:n.6914+118_6914+121del
NM_025114.4:c.5709+118_5709+121del MANE Select	NP_079390.3:n.5709+118_5709+121del