Canonical Allele Identifier: CA2832538958

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477857dup , CM000663.2:g.197477857dup	GRCh38
NC_000001.10:g.197446987dup , CM000663.1:g.197446987dup	GRCh37
NC_000001.9:g.195713610dup	NCBI36
NG_008483.1:g.214580dup
NG_008483.2:g.281396dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4199dup MANE Select	ENSP00000356370.3:p.Ala1401CysfsTer21
ENST00000367399.6:c.3863dup	ENSP00000356369.2:p.Ala1289CysfsTer?
ENST00000367400.7:c.4199dup	ENSP00000356370.3:p.Ala1401CysfsTer21
ENST00000448952.1:c.433dup	ENSP00000395407.1:n.433dup
ENST00000484075.5:c.*310dup	ENSP00000433932.1:n.*310dup
ENST00000535699.5:c.4127dup	ENSP00000438786.1:p.Ala1377CysfsTer21
ENST00000538660.5:c.2591dup	ENSP00000438091.1:p.Ala865CysfsTer21
NM_001193640.1:c.3863dup	NP_001180569.1:p.Ala1289CysfsTer21
NM_001257965.1:c.4127dup	NP_001244894.1:p.Ala1377CysfsTer21
NM_001257966.1:c.2591dup	NP_001244895.1:p.Ala865CysfsTer21
NM_201253.2:c.4199dup	NP_957705.1:p.Ala1401CysfsTer21
NR_047563.1:n.4200dup
NR_047564.1:n.4650dup
XM_011509366.1:c.*304dup	XP_011507668.1:n.*304dup
XM_011509367.1:c.*178dup	XP_011507669.1:n.*178dup
XM_011509368.1:c.3617dup	XP_011507670.1:p.Ala1207CysfsTer21
XM_011509369.1:c.2642dup	XP_011507671.1:p.Ala882CysfsTer21
XM_011509369.2:c.2642dup	XP_011507671.1:p.Ala882CysfsTer21
XM_017000851.1:c.3356dup	XP_016856340.1:p.Ala1120CysfsTer21
XM_017000852.1:c.4334dup	XP_016856341.1:p.Ala1446CysfsTer21
NM_201253.3:c.4199dup MANE Select	NP_957705.1:p.Ala1401CysfsTer21
NM_001193640.2:c.3863dup	NP_001180569.1:p.Ala1289CysfsTer21
NM_001257965.2:c.4127dup	NP_001244894.1:p.Ala1377CysfsTer21
NR_047563.2:n.4152dup
NR_047564.2:n.4602dup
NM_001257966.2:c.2591dup	NP_001244895.1:p.Ala865CysfsTer21