Canonical Allele Identifier: CA2586964526

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427887_197427893del , CM000663.2:g.197427887_197427893del	GRCh38
NC_000001.10:g.197397017_197397023del , CM000663.1:g.197397017_197397023del	GRCh37
NC_000001.9:g.195663640_195663646del	NCBI36
NG_008483.1:g.164610_164616del
NG_008483.2:g.231426_231432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2562_2568del MANE Select	ENSP00000356370.3:p.Val855Ter
ENST00000638467.1:c.2562_2568del	ENSP00000491102.1:p.Val855Ter
ENST00000681519.1:c.1443_1449del	ENSP00000505267.1:p.Val482Ter
ENST00000367397.1:c.705_711del	ENSP00000356367.1:p.Val236Ter
ENST00000367399.6:c.2226_2232del	ENSP00000356369.2:p.Val743Ter
ENST00000367400.7:c.2562_2568del	ENSP00000356370.3:p.Val855Ter
ENST00000484075.5:c.2562_2568del	ENSP00000433932.1:p.Val855Ter
ENST00000535699.5:c.2355_2361del	ENSP00000438786.1:p.Val786Ter
ENST00000538660.5:c.2128+5931_2128+5937del	ENSP00000438091.1:n.2128+5931_2128+5937del
NM_001193640.1:c.2226_2232del	NP_001180569.1:p.Val743Ter
NM_001257965.1:c.2355_2361del	NP_001244894.1:p.Val786Ter
NM_001257966.1:c.2128+5931_2128+5937del	NP_001244895.1:n.2128+5931_2128+5937del
NM_201253.2:c.2562_2568del	NP_957705.1:p.Val855Ter
NR_047563.1:n.2563_2569del
NR_047564.1:n.2771_2777del
XM_011509365.1:c.2562_2568del	XP_011507667.1:p.Val855Ter
XM_011509366.1:c.2562_2568del	XP_011507668.1:p.Val855Ter
XM_011509367.1:c.2562_2568del	XP_011507669.1:p.Val855Ter
XM_011509368.1:c.1980_1986del	XP_011507670.1:p.Val661Ter
XM_011509369.1:c.1005_1011del	XP_011507671.1:p.Val336Ter
XM_011509365.2:c.2562_2568del	XP_011507667.1:p.Val855Ter
XM_011509369.2:c.1005_1011del	XP_011507671.1:p.Val336Ter
XM_017000851.1:c.1719_1725del	XP_016856340.1:p.Val574Ter
XM_017000852.1:c.2562_2568del	XP_016856341.1:p.Val855Ter
NM_201253.3:c.2562_2568del MANE Select	NP_957705.1:p.Val855Ter
NM_001193640.2:c.2226_2232del	NP_001180569.1:p.Val743Ter
NM_001257965.2:c.2355_2361del	NP_001244894.1:p.Val786Ter
NR_047563.2:n.2515_2521del
NR_047564.2:n.2723_2729del
NM_001257966.2:c.2128+5931_2128+5937del	NP_001244895.1:n.2128+5931_2128+5937del