Canonical Allele Identifier: CA2573051455

Gene: CRB1

Linked Data

• ClinVar Variation Id: 1333702
• ClinVar RCV Id: RCV001808918
• dbSNP Id: rs2125470141

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421432_197421435dup , CM000663.2:g.197421432_197421435dup	GRCh38
NC_000001.10:g.197390562_197390565dup , CM000663.1:g.197390562_197390565dup	GRCh37
NC_000001.9:g.195657185_195657188dup	NCBI36
NG_008483.1:g.158155_158158dup
NG_008483.2:g.224971_224974dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1604_1607dup MANE Select	ENSP00000356370.3:p.Glu536AspfsTer16
ENST00000638467.1:c.1604_1607dup	ENSP00000491102.1:p.Glu536AspfsTer16
ENST00000681519.1:c.485_488dup	ENSP00000505267.1:p.Glu163AspfsTer16
ENST00000367397.1:c.-254_-251dup	ENSP00000356367.1:n.-254_-251dup
ENST00000367399.6:c.1268_1271dup	ENSP00000356369.2:p.Glu424AspfsTer16
ENST00000367400.7:c.1604_1607dup	ENSP00000356370.3:p.Glu536AspfsTer16
ENST00000476483.1:n.564_567dup
ENST00000484075.5:c.1604_1607dup	ENSP00000433932.1:p.Glu536AspfsTer16
ENST00000535699.5:c.1397_1400dup	ENSP00000438786.1:p.Glu467AspfsTer16
ENST00000538660.5:c.1604_1607dup	ENSP00000438091.1:p.Glu536AspfsTer16
NM_001193640.1:c.1268_1271dup	NP_001180569.1:p.Glu424AspfsTer16
NM_001257965.1:c.1397_1400dup	NP_001244894.1:p.Glu467AspfsTer16
NM_001257966.1:c.1604_1607dup	NP_001244895.1:p.Glu536AspfsTer16
NM_201253.2:c.1604_1607dup	NP_957705.1:p.Glu536AspfsTer16
NR_047563.1:n.1813_1816dup
NR_047564.1:n.1813_1816dup
XM_011509365.1:c.1604_1607dup	XP_011507667.1:p.Glu536AspfsTer16
XM_011509366.1:c.1604_1607dup	XP_011507668.1:p.Glu536AspfsTer16
XM_011509367.1:c.1604_1607dup	XP_011507669.1:p.Glu536AspfsTer16
XM_011509368.1:c.1022_1025dup	XP_011507670.1:p.Glu342AspfsTer16
XM_011509369.1:c.47_50dup	XP_011507671.1:p.Glu17AspfsTer16
XM_011509365.2:c.1604_1607dup	XP_011507667.1:p.Glu536AspfsTer16
XM_011509369.2:c.47_50dup	XP_011507671.1:p.Glu17AspfsTer16
XM_017000851.1:c.761_764dup	XP_016856340.1:p.Glu255AspfsTer16
XM_017000852.1:c.1604_1607dup	XP_016856341.1:p.Glu536AspfsTer16
NM_201253.3:c.1604_1607dup MANE Select	NP_957705.1:p.Glu536AspfsTer16
NM_001193640.2:c.1268_1271dup	NP_001180569.1:p.Glu424AspfsTer16
NM_001257965.2:c.1397_1400dup	NP_001244894.1:p.Glu467AspfsTer16
NR_047563.2:n.1765_1768dup
NR_047564.2:n.1765_1768dup
NM_001257966.2:c.1604_1607dup	NP_001244895.1:p.Glu536AspfsTer16