Canonical Allele Identifier: CA2586967933

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477672_197477673dup , CM000663.2:g.197477672_197477673dup	GRCh38
NC_000001.10:g.197446802_197446803dup , CM000663.1:g.197446802_197446803dup	GRCh37
NC_000001.9:g.195713425_195713426dup	NCBI36
NG_008483.1:g.214395_214396dup
NG_008483.2:g.281211_281212dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4014_4015dup MANE Select	ENSP00000356370.3:p.Asp1339ValfsTer3
ENST00000367399.6:c.3678_3679dup	ENSP00000356369.2:p.Asp1227ValfsTer3
ENST00000367400.7:c.4014_4015dup	ENSP00000356370.3:p.Asp1339ValfsTer3
ENST00000448952.1:c.248_249dup	ENSP00000395407.1:n.248_249dup
ENST00000484075.5:c.*125_*126dup	ENSP00000433932.1:n.*125_*126dup
ENST00000535699.5:c.3942_3943dup	ENSP00000438786.1:p.Asp1315ValfsTer3
ENST00000538660.5:c.2406_2407dup	ENSP00000438091.1:p.Asp803ValfsTer3
NM_001193640.1:c.3678_3679dup	NP_001180569.1:p.Asp1227ValfsTer3
NM_001257965.1:c.3942_3943dup	NP_001244894.1:p.Asp1315ValfsTer3
NM_001257966.1:c.2406_2407dup	NP_001244895.1:p.Asp803ValfsTer3
NM_201253.2:c.4014_4015dup	NP_957705.1:p.Asp1339ValfsTer3
NR_047563.1:n.4015_4016dup
NR_047564.1:n.4465_4466dup
XM_011509366.1:c.*119_*120dup	XP_011507668.1:n.*119_*120dup
XM_011509367.1:c.3887_3888dup	XP_011507669.1:p.Thr1297Ter
XM_011509368.1:c.3432_3433dup	XP_011507670.1:p.Asp1145ValfsTer3
XM_011509369.1:c.2457_2458dup	XP_011507671.1:p.Asp820ValfsTer3
XM_011509369.2:c.2457_2458dup	XP_011507671.1:p.Asp820ValfsTer3
XM_017000851.1:c.3171_3172dup	XP_016856340.1:p.Asp1058ValfsTer3
XM_017000852.1:c.4149_4150dup	XP_016856341.1:p.Asp1384ValfsTer3
NM_201253.3:c.4014_4015dup MANE Select	NP_957705.1:p.Asp1339ValfsTer3
NM_001193640.2:c.3678_3679dup	NP_001180569.1:p.Asp1227ValfsTer3
NM_001257965.2:c.3942_3943dup	NP_001244894.1:p.Asp1315ValfsTer3
NR_047563.2:n.3967_3968dup
NR_047564.2:n.4417_4418dup
NM_001257966.2:c.2406_2407dup	NP_001244895.1:p.Asp803ValfsTer3