Canonical Allele Identifier: CA1218068827

Gene: CRB1

Linked Data

• dbSNP Id: rs1665085121

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435179_197435193dup , CM000663.2:g.197435179_197435193dup	GRCh38
NC_000001.10:g.197404309_197404323dup , CM000663.1:g.197404309_197404323dup	GRCh37
NC_000001.9:g.195670932_195670946dup	NCBI36
NG_008483.1:g.171902_171916dup
NG_008483.2:g.238718_238732dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3316_3330dup MANE Select	ENSP00000356370.3:p.Phe1110_Glu1111insTyrLeuSerTyrPhe
ENST00000638467.1:c.3316_3330dup	ENSP00000491102.1:p.Phe1110_Glu1111insTyrLeuSerTyrPhe
ENST00000681519.1:c.2197_2211dup	ENSP00000505267.1:p.Phe737_Glu738insTyrLeuSerTyrPhe
ENST00000367397.1:c.1459_1473dup	ENSP00000356367.1:p.Phe491_Glu492insTyrLeuSerTyrPhe
ENST00000367399.6:c.2980_2994dup	ENSP00000356369.2:p.Phe998_Glu999insTyrLeuSerTyrPhe
ENST00000367400.7:c.3316_3330dup	ENSP00000356370.3:p.Phe1110_Glu1111insTyrLeuSerTyrPhe
ENST00000484075.5:c.3316_3330dup	ENSP00000433932.1:p.Phe1110_Glu1111insTyrLeuSerTyrPhe
ENST00000535699.5:c.3244_3258dup	ENSP00000438786.1:p.Phe1086_Glu1087insTyrLeuSerTyrPhe
ENST00000538660.5:c.2129-421_2129-407dup	ENSP00000438091.1:n.2129-421_2129-407dup
NM_001193640.1:c.2980_2994dup	NP_001180569.1:p.Phe998_Glu999insTyrLeuSerTyrPhe
NM_001257965.1:c.3244_3258dup	NP_001244894.1:p.Phe1086_Glu1087insTyrLeuSerTyrPhe
NM_001257966.1:c.2129-421_2129-407dup	NP_001244895.1:n.2129-421_2129-407dup
NM_201253.2:c.3316_3330dup	NP_957705.1:p.Phe1110_Glu1111insTyrLeuSerTyrPhe
NR_047563.1:n.3317_3331dup
NR_047564.1:n.3525_3539dup
XM_011509365.1:c.3316_3330dup	XP_011507667.1:p.Phe1110_Glu1111insTyrLeuSerTyrPhe
XM_011509366.1:c.3316_3330dup	XP_011507668.1:p.Phe1110_Glu1111insTyrLeuSerTyrPhe
XM_011509367.1:c.3316_3330dup	XP_011507669.1:p.Phe1110_Glu1111insTyrLeuSerTyrPhe
XM_011509368.1:c.2734_2748dup	XP_011507670.1:p.Phe916_Glu917insTyrLeuSerTyrPhe
XM_011509369.1:c.1759_1773dup	XP_011507671.1:p.Phe591_Glu592insTyrLeuSerTyrPhe
XM_011509365.2:c.3316_3330dup	XP_011507667.1:p.Phe1110_Glu1111insTyrLeuSerTyrPhe
XM_011509369.2:c.1759_1773dup	XP_011507671.1:p.Phe591_Glu592insTyrLeuSerTyrPhe
XM_017000851.1:c.2473_2487dup	XP_016856340.1:p.Phe829_Glu830insTyrLeuSerTyrPhe
XM_017000852.1:c.3451_3465dup	XP_016856341.1:p.Phe1155_Glu1156insTyrLeuSerTyrPhe
NM_201253.3:c.3316_3330dup MANE Select	NP_957705.1:p.Phe1110_Glu1111insTyrLeuSerTyrPhe
NM_001193640.2:c.2980_2994dup	NP_001180569.1:p.Phe998_Glu999insTyrLeuSerTyrPhe
NM_001257965.2:c.3244_3258dup	NP_001244894.1:p.Phe1086_Glu1087insTyrLeuSerTyrPhe
NR_047563.2:n.3269_3283dup
NR_047564.2:n.3477_3491dup
NM_001257966.2:c.2129-421_2129-407dup	NP_001244895.1:n.2129-421_2129-407dup