Canonical Allele Identifier: CA2747249567

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197478067_197478069dup , CM000663.2:g.197478067_197478069dup	GRCh38
NC_000001.10:g.197447197_197447199dup , CM000663.1:g.197447197_197447199dup	GRCh37
NC_000001.9:g.195713820_195713822dup	NCBI36
NG_008483.1:g.214790_214792dup
NG_008483.2:g.281606_281608dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.*188_*190dup MANE Select	ENSP00000356370.3:n.*188_*190dup
ENST00000367400.7:c.*188_*190dup	ENSP00000356370.3:n.*188_*190dup
ENST00000448952.1:c.643_645dup	ENSP00000395407.1:n.643_645dup
ENST00000484075.5:c.*520_*522dup	ENSP00000433932.1:n.*520_*522dup
ENST00000535699.5:c.*188_*190dup	ENSP00000438786.1:n.*188_*190dup
ENST00000538660.5:c.*188_*190dup	ENSP00000438091.1:n.*188_*190dup
NM_001193640.1:c.*188_*190dup	NP_001180569.1:n.*188_*190dup
NM_001257965.1:c.*188_*190dup	NP_001244894.1:n.*188_*190dup
NM_001257966.1:c.*188_*190dup	NP_001244895.1:n.*188_*190dup
NM_201253.2:c.*188_*190dup	NP_957705.1:n.*188_*190dup
NR_047563.1:n.4410_4412dup
NR_047564.1:n.4860_4862dup
XM_011509366.1:c.*514_*516dup	XP_011507668.1:n.*514_*516dup
XM_011509367.1:c.*388_*390dup	XP_011507669.1:n.*388_*390dup
XM_011509368.1:c.*188_*190dup	XP_011507670.1:n.*188_*190dup
XM_011509369.1:c.*188_*190dup	XP_011507671.1:n.*188_*190dup
XM_011509369.2:c.*188_*190dup	XP_011507671.1:n.*188_*190dup
XM_017000851.1:c.*188_*190dup	XP_016856340.1:n.*188_*190dup
XM_017000852.1:c.*188_*190dup	XP_016856341.1:n.*188_*190dup
NM_201253.3:c.*188_*190dup MANE Select	NP_957705.1:n.*188_*190dup
NM_001193640.2:c.*188_*190dup	NP_001180569.1:n.*188_*190dup
NM_001257965.2:c.*188_*190dup	NP_001244894.1:n.*188_*190dup
NR_047563.2:n.4362_4364dup
NR_047564.2:n.4812_4814dup
NM_001257966.2:c.*188_*190dup	NP_001244895.1:n.*188_*190dup