Canonical Allele Identifier: CA2747247626

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427664_197427665insAGT , CM000663.2:g.197427664_197427665insAGT	GRCh38
NC_000001.10:g.197396794_197396795insAGT , CM000663.1:g.197396794_197396795insAGT	GRCh37
NC_000001.9:g.195663417_195663418insAGT	NCBI36
NG_008483.1:g.164387_164388insAGT
NG_008483.2:g.231203_231204insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2339_2340insAGT MANE Select	ENSP00000356370.3:p.Pro780_Lys781insVal
ENST00000638467.1:c.2339_2340insAGT	ENSP00000491102.1:p.Pro780_Lys781insVal
ENST00000681519.1:c.1220_1221insAGT	ENSP00000505267.1:p.Pro407_Lys408insVal
ENST00000367397.1:c.482_483insAGT	ENSP00000356367.1:p.Pro161_Lys162insVal
ENST00000367399.6:c.2003_2004insAGT	ENSP00000356369.2:p.Pro668_Lys669insVal
ENST00000367400.7:c.2339_2340insAGT	ENSP00000356370.3:p.Pro780_Lys781insVal
ENST00000480086.2:n.240_241insAGT
ENST00000484075.5:c.2339_2340insAGT	ENSP00000433932.1:p.Pro780_Lys781insVal
ENST00000535699.5:c.2132_2133insAGT	ENSP00000438786.1:p.Pro711_Lys712insVal
ENST00000538660.5:c.2128+5708_2128+5709insAGT	ENSP00000438091.1:n.2128+5708_2128+5709insAGT
NM_001193640.1:c.2003_2004insAGT	NP_001180569.1:p.Pro668_Lys669insVal
NM_001257965.1:c.2132_2133insAGT	NP_001244894.1:p.Pro711_Lys712insVal
NM_001257966.1:c.2128+5708_2128+5709insAGT	NP_001244895.1:n.2128+5708_2128+5709insAGT
NM_201253.2:c.2339_2340insAGT	NP_957705.1:p.Pro780_Lys781insVal
NR_047563.1:n.2340_2341insAGT
NR_047564.1:n.2548_2549insAGT
XM_011509365.1:c.2339_2340insAGT	XP_011507667.1:p.Pro780_Lys781insVal
XM_011509366.1:c.2339_2340insAGT	XP_011507668.1:p.Pro780_Lys781insVal
XM_011509367.1:c.2339_2340insAGT	XP_011507669.1:p.Pro780_Lys781insVal
XM_011509368.1:c.1757_1758insAGT	XP_011507670.1:p.Pro586_Lys587insVal
XM_011509369.1:c.782_783insAGT	XP_011507671.1:p.Pro261_Lys262insVal
XM_011509365.2:c.2339_2340insAGT	XP_011507667.1:p.Pro780_Lys781insVal
XM_011509369.2:c.782_783insAGT	XP_011507671.1:p.Pro261_Lys262insVal
XM_017000851.1:c.1496_1497insAGT	XP_016856340.1:p.Pro499_Lys500insVal
XM_017000852.1:c.2339_2340insAGT	XP_016856341.1:p.Pro780_Lys781insVal
NM_201253.3:c.2339_2340insAGT MANE Select	NP_957705.1:p.Pro780_Lys781insVal
NM_001193640.2:c.2003_2004insAGT	NP_001180569.1:p.Pro668_Lys669insVal
NM_001257965.2:c.2132_2133insAGT	NP_001244894.1:p.Pro711_Lys712insVal
NR_047563.2:n.2292_2293insAGT
NR_047564.2:n.2500_2501insAGT
NM_001257966.2:c.2128+5708_2128+5709insAGT	NP_001244895.1:n.2128+5708_2128+5709insAGT