Canonical Allele Identifier: CA1218066396

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427872_197427876delinsAGGCT , CM000663.2:g.197427872_197427876delinsAGGCT	GRCh38
NC_000001.10:g.197397002_197397006delinsAGGCT , CM000663.1:g.197397002_197397006delinsAGGCT	GRCh37
NC_000001.9:g.195663625_195663629delinsAGGCT	NCBI36
NG_008483.1:g.164595_164599delinsAGGCT
NG_008483.2:g.231411_231415delinsAGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2547_2551delinsAGGCT MANE Select	ENSP00000356370.3:p.Lys849=
ENST00000638467.1:c.2547_2551delinsAGGCT	ENSP00000491102.1:p.Lys849=
ENST00000681519.1:c.1428_1432delinsAGGCT	ENSP00000505267.1:p.Lys476=
ENST00000367397.1:c.690_694delinsAGGCT	ENSP00000356367.1:p.Lys230=
ENST00000367399.6:c.2211_2215delinsAGGCT	ENSP00000356369.2:p.Lys737=
ENST00000367400.7:c.2547_2551delinsAGGCT	ENSP00000356370.3:p.Lys849=
ENST00000484075.5:c.2547_2551delinsAGGCT	ENSP00000433932.1:p.Lys849=
ENST00000535699.5:c.2340_2344delinsAGGCT	ENSP00000438786.1:p.Lys780=
ENST00000538660.5:c.2128+5916_2128+5920delinsAGGCT	ENSP00000438091.1:n.2128+5916_2128+5920delinsAGGCT
NM_001193640.1:c.2211_2215delinsAGGCT	NP_001180569.1:p.Lys737=
NM_001257965.1:c.2340_2344delinsAGGCT	NP_001244894.1:p.Lys780=
NM_001257966.1:c.2128+5916_2128+5920delinsAGGCT	NP_001244895.1:n.2128+5916_2128+5920delinsAGGCT
NM_201253.2:c.2547_2551delinsAGGCT	NP_957705.1:p.Lys849=
NR_047563.1:n.2548_2552delinsAGGCT
NR_047564.1:n.2756_2760delinsAGGCT
XM_011509365.1:c.2547_2551delinsAGGCT	XP_011507667.1:p.Lys849=
XM_011509366.1:c.2547_2551delinsAGGCT	XP_011507668.1:p.Lys849=
XM_011509367.1:c.2547_2551delinsAGGCT	XP_011507669.1:p.Lys849=
XM_011509368.1:c.1965_1969delinsAGGCT	XP_011507670.1:p.Lys655=
XM_011509369.1:c.990_994delinsAGGCT	XP_011507671.1:p.Lys330=
XM_011509365.2:c.2547_2551delinsAGGCT	XP_011507667.1:p.Lys849=
XM_011509369.2:c.990_994delinsAGGCT	XP_011507671.1:p.Lys330=
XM_017000851.1:c.1704_1708delinsAGGCT	XP_016856340.1:p.Lys568=
XM_017000852.1:c.2547_2551delinsAGGCT	XP_016856341.1:p.Lys849=
NM_201253.3:c.2547_2551delinsAGGCT MANE Select	NP_957705.1:p.Lys849=
NM_001193640.2:c.2211_2215delinsAGGCT	NP_001180569.1:p.Lys737=
NM_001257965.2:c.2340_2344delinsAGGCT	NP_001244894.1:p.Lys780=
NR_047563.2:n.2500_2504delinsAGGCT
NR_047564.2:n.2708_2712delinsAGGCT
NM_001257966.2:c.2128+5916_2128+5920delinsAGGCT	NP_001244895.1:n.2128+5916_2128+5920delinsAGGCT