Canonical Allele Identifier: CA2586964523

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427766_197427767del , CM000663.2:g.197427766_197427767del	GRCh38
NC_000001.10:g.197396896_197396897del , CM000663.1:g.197396896_197396897del	GRCh37
NC_000001.9:g.195663519_195663520del	NCBI36
NG_008483.1:g.164489_164490del
NG_008483.2:g.231305_231306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2441_2442del MANE Select	ENSP00000356370.3:p.Leu814ArgfsTer23
ENST00000638467.1:c.2441_2442del	ENSP00000491102.1:p.Leu814ArgfsTer23
ENST00000681519.1:c.1322_1323del	ENSP00000505267.1:p.Leu441ArgfsTer23
ENST00000367397.1:c.584_585del	ENSP00000356367.1:p.Leu195ArgfsTer23
ENST00000367399.6:c.2105_2106del	ENSP00000356369.2:p.Leu702ArgfsTer23
ENST00000367400.7:c.2441_2442del	ENSP00000356370.3:p.Leu814ArgfsTer23
ENST00000480086.2:n.342_343del
ENST00000484075.5:c.2441_2442del	ENSP00000433932.1:p.Leu814ArgfsTer23
ENST00000535699.5:c.2234_2235del	ENSP00000438786.1:p.Leu745ArgfsTer23
ENST00000538660.5:c.2128+5810_2128+5811del	ENSP00000438091.1:n.2128+5810_2128+5811del
NM_001193640.1:c.2105_2106del	NP_001180569.1:p.Leu702ArgfsTer23
NM_001257965.1:c.2234_2235del	NP_001244894.1:p.Leu745ArgfsTer23
NM_001257966.1:c.2128+5810_2128+5811del	NP_001244895.1:n.2128+5810_2128+5811del
NM_201253.2:c.2441_2442del	NP_957705.1:p.Leu814ArgfsTer23
NR_047563.1:n.2442_2443del
NR_047564.1:n.2650_2651del
XM_011509365.1:c.2441_2442del	XP_011507667.1:p.Leu814ArgfsTer23
XM_011509366.1:c.2441_2442del	XP_011507668.1:p.Leu814ArgfsTer23
XM_011509367.1:c.2441_2442del	XP_011507669.1:p.Leu814ArgfsTer23
XM_011509368.1:c.1859_1860del	XP_011507670.1:p.Leu620ArgfsTer23
XM_011509369.1:c.884_885del	XP_011507671.1:p.Leu295ArgfsTer23
XM_011509365.2:c.2441_2442del	XP_011507667.1:p.Leu814ArgfsTer23
XM_011509369.2:c.884_885del	XP_011507671.1:p.Leu295ArgfsTer23
XM_017000851.1:c.1598_1599del	XP_016856340.1:p.Leu533ArgfsTer23
XM_017000852.1:c.2441_2442del	XP_016856341.1:p.Leu814ArgfsTer23
NM_201253.3:c.2441_2442del MANE Select	NP_957705.1:p.Leu814ArgfsTer23
NM_001193640.2:c.2105_2106del	NP_001180569.1:p.Leu702ArgfsTer23
NM_001257965.2:c.2234_2235del	NP_001244894.1:p.Leu745ArgfsTer23
NR_047563.2:n.2394_2395del
NR_047564.2:n.2602_2603del
NM_001257966.2:c.2128+5810_2128+5811del	NP_001244895.1:n.2128+5810_2128+5811del