Canonical Allele Identifier: CA1218087295

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477871_197477872delinsCT , CM000663.2:g.197477871_197477872delinsCT	GRCh38
NC_000001.10:g.197447001_197447002delinsCT , CM000663.1:g.197447001_197447002delinsCT	GRCh37
NC_000001.9:g.195713624_195713625delinsCT	NCBI36
NG_008483.1:g.214594_214595delinsCT
NG_008483.2:g.281410_281411delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4213_4214delinsCT MANE Select	ENSP00000356370.3:p.Leu1405=
ENST00000367399.6:c.3877_3878delinsCT	ENSP00000356369.2:p.Leu1293=
ENST00000367400.7:c.4213_4214delinsCT	ENSP00000356370.3:p.Leu1405=
ENST00000448952.1:c.447_448delinsCT	ENSP00000395407.1:n.447_448delinsCT
ENST00000484075.5:c.*324_*325delinsCT	ENSP00000433932.1:n.*324_*325delinsCT
ENST00000535699.5:c.4141_4142delinsCT	ENSP00000438786.1:p.Leu1381=
ENST00000538660.5:c.2605_2606delinsCT	ENSP00000438091.1:p.Leu869=
NM_001193640.1:c.3877_3878delinsCT	NP_001180569.1:p.Leu1293=
NM_001257965.1:c.4141_4142delinsCT	NP_001244894.1:p.Leu1381=
NM_001257966.1:c.2605_2606delinsCT	NP_001244895.1:p.Leu869=
NM_201253.2:c.4213_4214delinsCT	NP_957705.1:p.Leu1405=
NR_047563.1:n.4214_4215delinsCT
NR_047564.1:n.4664_4665delinsCT
XM_011509366.1:c.*318_*319delinsCT	XP_011507668.1:n.*318_*319delinsCT
XM_011509367.1:c.*192_*193delinsCT	XP_011507669.1:n.*192_*193delinsCT
XM_011509368.1:c.3631_3632delinsCT	XP_011507670.1:p.Leu1211=
XM_011509369.1:c.2656_2657delinsCT	XP_011507671.1:p.Leu886=
XM_011509369.2:c.2656_2657delinsCT	XP_011507671.1:p.Leu886=
XM_017000851.1:c.3370_3371delinsCT	XP_016856340.1:p.Leu1124=
XM_017000852.1:c.4348_4349delinsCT	XP_016856341.1:p.Leu1450=
NM_201253.3:c.4213_4214delinsCT MANE Select	NP_957705.1:p.Leu1405=
NM_001193640.2:c.3877_3878delinsCT	NP_001180569.1:p.Leu1293=
NM_001257965.2:c.4141_4142delinsCT	NP_001244894.1:p.Leu1381=
NR_047563.2:n.4166_4167delinsCT
NR_047564.2:n.4616_4617delinsCT
NM_001257966.2:c.2605_2606delinsCT	NP_001244895.1:p.Leu869=