Canonical Allele Identifier: CA2586964524

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427858_197427870del , CM000663.2:g.197427858_197427870del	GRCh38
NC_000001.10:g.197396988_197397000del , CM000663.1:g.197396988_197397000del	GRCh37
NC_000001.9:g.195663611_195663623del	NCBI36
NG_008483.1:g.164581_164593del
NG_008483.2:g.231397_231409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2533_2545del MANE Select	ENSP00000356370.3:p.Gly845LysfsTer7
ENST00000638467.1:c.2533_2545del	ENSP00000491102.1:p.Gly845LysfsTer7
ENST00000681519.1:c.1414_1426del	ENSP00000505267.1:p.Gly472LysfsTer7
ENST00000367397.1:c.676_688del	ENSP00000356367.1:p.Gly226LysfsTer7
ENST00000367399.6:c.2197_2209del	ENSP00000356369.2:p.Gly733LysfsTer7
ENST00000367400.7:c.2533_2545del	ENSP00000356370.3:p.Gly845LysfsTer7
ENST00000484075.5:c.2533_2545del	ENSP00000433932.1:p.Gly845LysfsTer7
ENST00000535699.5:c.2326_2338del	ENSP00000438786.1:p.Gly776LysfsTer7
ENST00000538660.5:c.2128+5902_2128+5914del	ENSP00000438091.1:n.2128+5902_2128+5914del
NM_001193640.1:c.2197_2209del	NP_001180569.1:p.Gly733LysfsTer7
NM_001257965.1:c.2326_2338del	NP_001244894.1:p.Gly776LysfsTer7
NM_001257966.1:c.2128+5902_2128+5914del	NP_001244895.1:n.2128+5902_2128+5914del
NM_201253.2:c.2533_2545del	NP_957705.1:p.Gly845LysfsTer7
NR_047563.1:n.2534_2546del
NR_047564.1:n.2742_2754del
XM_011509365.1:c.2533_2545del	XP_011507667.1:p.Gly845LysfsTer7
XM_011509366.1:c.2533_2545del	XP_011507668.1:p.Gly845LysfsTer7
XM_011509367.1:c.2533_2545del	XP_011507669.1:p.Gly845LysfsTer7
XM_011509368.1:c.1951_1963del	XP_011507670.1:p.Gly651LysfsTer7
XM_011509369.1:c.976_988del	XP_011507671.1:p.Gly326LysfsTer7
XM_011509365.2:c.2533_2545del	XP_011507667.1:p.Gly845LysfsTer7
XM_011509369.2:c.976_988del	XP_011507671.1:p.Gly326LysfsTer7
XM_017000851.1:c.1690_1702del	XP_016856340.1:p.Gly564LysfsTer7
XM_017000852.1:c.2533_2545del	XP_016856341.1:p.Gly845LysfsTer7
NM_201253.3:c.2533_2545del MANE Select	NP_957705.1:p.Gly845LysfsTer7
NM_001193640.2:c.2197_2209del	NP_001180569.1:p.Gly733LysfsTer7
NM_001257965.2:c.2326_2338del	NP_001244894.1:p.Gly776LysfsTer7
NR_047563.2:n.2486_2498del
NR_047564.2:n.2694_2706del
NM_001257966.2:c.2128+5902_2128+5914del	NP_001244895.1:n.2128+5902_2128+5914del