Canonical Allele Identifier: CA2698121983

Gene: CRB1

Linked Data

• dbSNP Id: rs2125574272

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477852_197477853del , CM000663.2:g.197477852_197477853del	GRCh38
NC_000001.10:g.197446982_197446983del , CM000663.1:g.197446982_197446983del	GRCh37
NC_000001.9:g.195713605_195713606del	NCBI36
NG_008483.1:g.214575_214576del
NG_008483.2:g.281391_281392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4194_4195del MANE Select	ENSP00000356370.3:p.Pro1400CysfsTer21
ENST00000367399.6:c.3858_3859del	ENSP00000356369.2:p.Pro1288CysfsTer?
ENST00000367400.7:c.4194_4195del	ENSP00000356370.3:p.Pro1400CysfsTer21
ENST00000448952.1:c.428_429del	ENSP00000395407.1:n.428_429del
ENST00000484075.5:c.*305_*306del	ENSP00000433932.1:n.*305_*306del
ENST00000535699.5:c.4122_4123del	ENSP00000438786.1:p.Pro1376CysfsTer21
ENST00000538660.5:c.2586_2587del	ENSP00000438091.1:p.Pro864CysfsTer21
NM_001193640.1:c.3858_3859del	NP_001180569.1:p.Pro1288CysfsTer21
NM_001257965.1:c.4122_4123del	NP_001244894.1:p.Pro1376CysfsTer21
NM_001257966.1:c.2586_2587del	NP_001244895.1:p.Pro864CysfsTer21
NM_201253.2:c.4194_4195del	NP_957705.1:p.Pro1400CysfsTer21
NR_047563.1:n.4195_4196del
NR_047564.1:n.4645_4646del
XM_011509366.1:c.*299_*300del	XP_011507668.1:n.*299_*300del
XM_011509367.1:c.*173_*174del	XP_011507669.1:n.*173_*174del
XM_011509368.1:c.3612_3613del	XP_011507670.1:p.Pro1206CysfsTer21
XM_011509369.1:c.2637_2638del	XP_011507671.1:p.Pro881CysfsTer21
XM_011509369.2:c.2637_2638del	XP_011507671.1:p.Pro881CysfsTer21
XM_017000851.1:c.3351_3352del	XP_016856340.1:p.Pro1119CysfsTer21
XM_017000852.1:c.4329_4330del	XP_016856341.1:p.Pro1445CysfsTer21
NM_201253.3:c.4194_4195del MANE Select	NP_957705.1:p.Pro1400CysfsTer21
NM_001193640.2:c.3858_3859del	NP_001180569.1:p.Pro1288CysfsTer21
NM_001257965.2:c.4122_4123del	NP_001244894.1:p.Pro1376CysfsTer21
NR_047563.2:n.4147_4148del
NR_047564.2:n.4597_4598del
NM_001257966.2:c.2586_2587del	NP_001244895.1:p.Pro864CysfsTer21