Canonical Allele Identifier: CA1148228981

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427856_197427864delinsATGGTGGAT , CM000663.2:g.197427856_197427864delinsATGGTGGAT	GRCh38
NC_000001.10:g.197396986_197396994delinsATGGTGGAT , CM000663.1:g.197396986_197396994delinsATGGTGGAT	GRCh37
NC_000001.9:g.195663609_195663617delinsATGGTGGAT	NCBI36
NG_008483.1:g.164579_164587delinsATGGTGGAT
NG_008483.2:g.231395_231403delinsATGGTGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2531_2539delinsATGGTGGAT MANE Select	ENSP00000356370.3:p.Asn844=
ENST00000638467.1:c.2531_2539delinsATGGTGGAT	ENSP00000491102.1:p.Asn844=
ENST00000681519.1:c.1412_1420delinsATGGTGGAT	ENSP00000505267.1:p.Asn471=
ENST00000367397.1:c.674_682delinsATGGTGGAT	ENSP00000356367.1:p.Asn225=
ENST00000367399.6:c.2195_2203delinsATGGTGGAT	ENSP00000356369.2:p.Asn732=
ENST00000367400.7:c.2531_2539delinsATGGTGGAT	ENSP00000356370.3:p.Asn844=
ENST00000484075.5:c.2531_2539delinsATGGTGGAT	ENSP00000433932.1:p.Asn844=
ENST00000535699.5:c.2324_2332delinsATGGTGGAT	ENSP00000438786.1:p.Asn775=
ENST00000538660.5:c.2128+5900_2128+5908delinsATGGTGGAT	ENSP00000438091.1:n.2128+5900_2128+5908delinsATGGTGGAT
NM_001193640.1:c.2195_2203delinsATGGTGGAT	NP_001180569.1:p.Asn732=
NM_001257965.1:c.2324_2332delinsATGGTGGAT	NP_001244894.1:p.Asn775=
NM_001257966.1:c.2128+5900_2128+5908delinsATGGTGGAT	NP_001244895.1:n.2128+5900_2128+5908delinsATGGTGGAT
NM_201253.2:c.2531_2539delinsATGGTGGAT	NP_957705.1:p.Asn844=
NR_047563.1:n.2532_2540delinsATGGTGGAT
NR_047564.1:n.2740_2748delinsATGGTGGAT
XM_011509365.1:c.2531_2539delinsATGGTGGAT	XP_011507667.1:p.Asn844=
XM_011509366.1:c.2531_2539delinsATGGTGGAT	XP_011507668.1:p.Asn844=
XM_011509367.1:c.2531_2539delinsATGGTGGAT	XP_011507669.1:p.Asn844=
XM_011509368.1:c.1949_1957delinsATGGTGGAT	XP_011507670.1:p.Asn650=
XM_011509369.1:c.974_982delinsATGGTGGAT	XP_011507671.1:p.Asn325=
XM_011509365.2:c.2531_2539delinsATGGTGGAT	XP_011507667.1:p.Asn844=
XM_011509369.2:c.974_982delinsATGGTGGAT	XP_011507671.1:p.Asn325=
XM_017000851.1:c.1688_1696delinsATGGTGGAT	XP_016856340.1:p.Asn563=
XM_017000852.1:c.2531_2539delinsATGGTGGAT	XP_016856341.1:p.Asn844=
NM_201253.3:c.2531_2539delinsATGGTGGAT MANE Select	NP_957705.1:p.Asn844=
NM_001193640.2:c.2195_2203delinsATGGTGGAT	NP_001180569.1:p.Asn732=
NM_001257965.2:c.2324_2332delinsATGGTGGAT	NP_001244894.1:p.Asn775=
NR_047563.2:n.2484_2492delinsATGGTGGAT
NR_047564.2:n.2692_2700delinsATGGTGGAT
NM_001257966.2:c.2128+5900_2128+5908delinsATGGTGGAT	NP_001244895.1:n.2128+5900_2128+5908delinsATGGTGGAT