Canonical Allele Identifier: CA2649669875

Gene: CRB1

Linked Data

• gnomAD v4: 1-197421476-A-AAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421477_197421478dup , CM000663.2:g.197421477_197421478dup	GRCh38
NC_000001.10:g.197390607_197390608dup , CM000663.1:g.197390607_197390608dup	GRCh37
NC_000001.9:g.195657230_195657231dup	NCBI36
NG_008483.1:g.158200_158201dup
NG_008483.2:g.225016_225017dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1649_1650dup MANE Select	ENSP00000356370.3:p.Gln551IlefsTer23
ENST00000638467.1:c.1649_1650dup	ENSP00000491102.1:p.Gln551IlefsTer23
ENST00000681519.1:c.530_531dup	ENSP00000505267.1:p.Gln178IlefsTer23
ENST00000367397.1:c.-209_-208dup	ENSP00000356367.1:n.-209_-208dup
ENST00000367399.6:c.1313_1314dup	ENSP00000356369.2:p.Gln439IlefsTer23
ENST00000367400.7:c.1649_1650dup	ENSP00000356370.3:p.Gln551IlefsTer23
ENST00000484075.5:c.1649_1650dup	ENSP00000433932.1:p.Gln551IlefsTer23
ENST00000535699.5:c.1442_1443dup	ENSP00000438786.1:p.Gln482IlefsTer23
ENST00000538660.5:c.1649_1650dup	ENSP00000438091.1:p.Gln551IlefsTer23
NM_001193640.1:c.1313_1314dup	NP_001180569.1:p.Gln439IlefsTer23
NM_001257965.1:c.1442_1443dup	NP_001244894.1:p.Gln482IlefsTer23
NM_001257966.1:c.1649_1650dup	NP_001244895.1:p.Gln551IlefsTer23
NM_201253.2:c.1649_1650dup	NP_957705.1:p.Gln551IlefsTer23
NR_047563.1:n.1858_1859dup
NR_047564.1:n.1858_1859dup
XM_011509365.1:c.1649_1650dup	XP_011507667.1:p.Gln551IlefsTer23
XM_011509366.1:c.1649_1650dup	XP_011507668.1:p.Gln551IlefsTer23
XM_011509367.1:c.1649_1650dup	XP_011507669.1:p.Gln551IlefsTer23
XM_011509368.1:c.1067_1068dup	XP_011507670.1:p.Gln357IlefsTer23
XM_011509369.1:c.92_93dup	XP_011507671.1:p.Gln32IlefsTer23
XM_011509365.2:c.1649_1650dup	XP_011507667.1:p.Gln551IlefsTer23
XM_011509369.2:c.92_93dup	XP_011507671.1:p.Gln32IlefsTer23
XM_017000851.1:c.806_807dup	XP_016856340.1:p.Gln270IlefsTer23
XM_017000852.1:c.1649_1650dup	XP_016856341.1:p.Gln551IlefsTer23
NM_201253.3:c.1649_1650dup MANE Select	NP_957705.1:p.Gln551IlefsTer23
NM_001193640.2:c.1313_1314dup	NP_001180569.1:p.Gln439IlefsTer23
NM_001257965.2:c.1442_1443dup	NP_001244894.1:p.Gln482IlefsTer23
NR_047563.2:n.1810_1811dup
NR_047564.2:n.1810_1811dup
NM_001257966.2:c.1649_1650dup	NP_001244895.1:p.Gln551IlefsTer23