Canonical Allele Identifier: CA528535355
Gene: CRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1399886576

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197421132del , CM000663.2:g.197421132del GRCh38
NC_000001.10:g.197390262del , CM000663.1:g.197390262del GRCh37
NC_000001.9:g.195656885del NCBI36
NG_008483.1:g.157855del
NG_008483.2:g.224671del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.1304del MANE Select ENSP00000356370.3:p.Gly435GlufsTer17
ENST00000638467.1:c.1304del ENSP00000491102.1:p.Gly435GlufsTer17
ENST00000681519.1:c.185del ENSP00000505267.1:p.Gly62GlufsTer17
ENST00000367397.1:c.-554del ENSP00000356367.1:n.-554del
ENST00000367399.6:c.968del ENSP00000356369.2:p.Gly323GlufsTer17
ENST00000367400.7:c.1304del ENSP00000356370.3:p.Gly435GlufsTer17
ENST00000476483.1:n.264del
ENST00000484075.5:c.1304del ENSP00000433932.1:p.Gly435GlufsTer17
ENST00000535699.5:c.1097del ENSP00000438786.1:p.Gly366GlufsTer17
ENST00000538660.5:c.1304del ENSP00000438091.1:p.Gly435GlufsTer17
NM_001193640.1:c.968del NP_001180569.1:p.Gly323GlufsTer17
NM_001257965.1:c.1097del NP_001244894.1:p.Gly366GlufsTer17
NM_001257966.1:c.1304del NP_001244895.1:p.Gly435GlufsTer17
NM_201253.2:c.1304del NP_957705.1:p.Gly435GlufsTer17
NR_047563.1:n.1513del
NR_047564.1:n.1513del
XM_011509365.1:c.1304del XP_011507667.1:p.Gly435GlufsTer17
XM_011509366.1:c.1304del XP_011507668.1:p.Gly435GlufsTer17
XM_011509367.1:c.1304del XP_011507669.1:p.Gly435GlufsTer17
XM_011509368.1:c.722del XP_011507670.1:p.Gly241GlufsTer17
XM_011509369.1:c.-254del XP_011507671.1:n.-254del
XM_011509365.2:c.1304del XP_011507667.1:p.Gly435GlufsTer17
XM_011509369.2:c.-254del XP_011507671.1:n.-254del
XM_017000851.1:c.461del XP_016856340.1:p.Gly154GlufsTer17
XM_017000852.1:c.1304del XP_016856341.1:p.Gly435GlufsTer17
NM_201253.3:c.1304del MANE Select NP_957705.1:p.Gly435GlufsTer17
NM_001193640.2:c.968del NP_001180569.1:p.Gly323GlufsTer17
NM_001257965.2:c.1097del NP_001244894.1:p.Gly366GlufsTer17
NR_047563.2:n.1465del
NR_047564.2:n.1465del
NM_001257966.2:c.1304del NP_001244895.1:p.Gly435GlufsTer17