Canonical Allele Identifier: CA2649670219

Gene: CRB1

Linked Data

• gnomAD v4: 1-197427911-GGAATTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427912_197427918del , CM000663.2:g.197427912_197427918del	GRCh38
NC_000001.10:g.197397042_197397048del , CM000663.1:g.197397042_197397048del	GRCh37
NC_000001.9:g.195663665_195663671del	NCBI36
NG_008483.1:g.164635_164641del
NG_008483.2:g.231451_231457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2587_2593del MANE Select	ENSP00000356370.3:p.Glu863PhefsTer17
ENST00000638467.1:c.2587_2593del	ENSP00000491102.1:p.Glu863PhefsTer17
ENST00000681519.1:c.1468_1474del	ENSP00000505267.1:p.Glu490PhefsTer17
ENST00000367397.1:c.730_736del	ENSP00000356367.1:p.Glu244PhefsTer17
ENST00000367399.6:c.2251_2257del	ENSP00000356369.2:p.Glu751PhefsTer17
ENST00000367400.7:c.2587_2593del	ENSP00000356370.3:p.Glu863PhefsTer17
ENST00000484075.5:c.2587_2593del	ENSP00000433932.1:p.Glu863PhefsTer17
ENST00000535699.5:c.2380_2386del	ENSP00000438786.1:p.Glu794PhefsTer17
ENST00000538660.5:c.2128+5956_2128+5962del	ENSP00000438091.1:n.2128+5956_2128+5962del
NM_001193640.1:c.2251_2257del	NP_001180569.1:p.Glu751PhefsTer17
NM_001257965.1:c.2380_2386del	NP_001244894.1:p.Glu794PhefsTer17
NM_001257966.1:c.2128+5956_2128+5962del	NP_001244895.1:n.2128+5956_2128+5962del
NM_201253.2:c.2587_2593del	NP_957705.1:p.Glu863PhefsTer17
NR_047563.1:n.2588_2594del
NR_047564.1:n.2796_2802del
XM_011509365.1:c.2587_2593del	XP_011507667.1:p.Glu863PhefsTer17
XM_011509366.1:c.2587_2593del	XP_011507668.1:p.Glu863PhefsTer17
XM_011509367.1:c.2587_2593del	XP_011507669.1:p.Glu863PhefsTer17
XM_011509368.1:c.2005_2011del	XP_011507670.1:p.Glu669PhefsTer17
XM_011509369.1:c.1030_1036del	XP_011507671.1:p.Glu344PhefsTer17
XM_011509365.2:c.2587_2593del	XP_011507667.1:p.Glu863PhefsTer17
XM_011509369.2:c.1030_1036del	XP_011507671.1:p.Glu344PhefsTer17
XM_017000851.1:c.1744_1750del	XP_016856340.1:p.Glu582PhefsTer17
XM_017000852.1:c.2587_2593del	XP_016856341.1:p.Glu863PhefsTer17
NM_201253.3:c.2587_2593del MANE Select	NP_957705.1:p.Glu863PhefsTer17
NM_001193640.2:c.2251_2257del	NP_001180569.1:p.Glu751PhefsTer17
NM_001257965.2:c.2380_2386del	NP_001244894.1:p.Glu794PhefsTer17
NR_047563.2:n.2540_2546del
NR_047564.2:n.2748_2754del
NM_001257966.2:c.2128+5956_2128+5962del	NP_001244895.1:n.2128+5956_2128+5962del