Canonical Allele Identifier: CA2837994669

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427815_197427816del , CM000663.2:g.197427815_197427816del	GRCh38
NC_000001.10:g.197396945_197396946del , CM000663.1:g.197396945_197396946del	GRCh37
NC_000001.9:g.195663568_195663569del	NCBI36
NG_008483.1:g.164538_164539del
NG_008483.2:g.231354_231355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2490_2491del MANE Select	ENSP00000356370.3:p.Tyr831HisfsTer6
ENST00000638467.1:c.2490_2491del	ENSP00000491102.1:p.Tyr831HisfsTer6
ENST00000681519.1:c.1371_1372del	ENSP00000505267.1:p.Tyr458HisfsTer6
ENST00000367397.1:c.633_634del	ENSP00000356367.1:p.Tyr212HisfsTer6
ENST00000367399.6:c.2154_2155del	ENSP00000356369.2:p.Tyr719HisfsTer6
ENST00000367400.7:c.2490_2491del	ENSP00000356370.3:p.Tyr831HisfsTer6
ENST00000480086.2:n.391_392del
ENST00000484075.5:c.2490_2491del	ENSP00000433932.1:p.Tyr831HisfsTer6
ENST00000535699.5:c.2283_2284del	ENSP00000438786.1:p.Tyr762HisfsTer6
ENST00000538660.5:c.2128+5859_2128+5860del	ENSP00000438091.1:n.2128+5859_2128+5860del
NM_001193640.1:c.2154_2155del	NP_001180569.1:p.Tyr719HisfsTer6
NM_001257965.1:c.2283_2284del	NP_001244894.1:p.Tyr762HisfsTer6
NM_001257966.1:c.2128+5859_2128+5860del	NP_001244895.1:n.2128+5859_2128+5860del
NM_201253.2:c.2490_2491del	NP_957705.1:p.Tyr831HisfsTer6
NR_047563.1:n.2491_2492del
NR_047564.1:n.2699_2700del
XM_011509365.1:c.2490_2491del	XP_011507667.1:p.Tyr831HisfsTer6
XM_011509366.1:c.2490_2491del	XP_011507668.1:p.Tyr831HisfsTer6
XM_011509367.1:c.2490_2491del	XP_011507669.1:p.Tyr831HisfsTer6
XM_011509368.1:c.1908_1909del	XP_011507670.1:p.Tyr637HisfsTer6
XM_011509369.1:c.933_934del	XP_011507671.1:p.Tyr312HisfsTer6
XM_011509365.2:c.2490_2491del	XP_011507667.1:p.Tyr831HisfsTer6
XM_011509369.2:c.933_934del	XP_011507671.1:p.Tyr312HisfsTer6
XM_017000851.1:c.1647_1648del	XP_016856340.1:p.Tyr550HisfsTer6
XM_017000852.1:c.2490_2491del	XP_016856341.1:p.Tyr831HisfsTer6
NM_201253.3:c.2490_2491del MANE Select	NP_957705.1:p.Tyr831HisfsTer6
NM_001193640.2:c.2154_2155del	NP_001180569.1:p.Tyr719HisfsTer6
NM_001257965.2:c.2283_2284del	NP_001244894.1:p.Tyr762HisfsTer6
NR_047563.2:n.2443_2444del
NR_047564.2:n.2651_2652del
NM_001257966.2:c.2128+5859_2128+5860del	NP_001244895.1:n.2128+5859_2128+5860del