Canonical Allele Identifier: CA2695199943
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2680960
ClinVar RCV Id: RCV003475753

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197421254del , CM000663.2:g.197421254del GRCh38
NC_000001.10:g.197390384del , CM000663.1:g.197390384del GRCh37
NC_000001.9:g.195657007del NCBI36
NG_008483.1:g.157977del
NG_008483.2:g.224793del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.1426del MANE Select ENSP00000356370.3:p.Thr476ProfsTer26
ENST00000638467.1:c.1426del ENSP00000491102.1:p.Thr476ProfsTer26
ENST00000681519.1:c.307del ENSP00000505267.1:p.Thr103ProfsTer26
ENST00000367397.1:c.-432del ENSP00000356367.1:n.-432del
ENST00000367399.6:c.1090del ENSP00000356369.2:p.Thr364ProfsTer26
ENST00000367400.7:c.1426del ENSP00000356370.3:p.Thr476ProfsTer26
ENST00000476483.1:n.386del
ENST00000484075.5:c.1426del ENSP00000433932.1:p.Thr476ProfsTer26
ENST00000535699.5:c.1219del ENSP00000438786.1:p.Thr407ProfsTer26
ENST00000538660.5:c.1426del ENSP00000438091.1:p.Thr476ProfsTer26
NM_001193640.1:c.1090del NP_001180569.1:p.Thr364ProfsTer26
NM_001257965.1:c.1219del NP_001244894.1:p.Thr407ProfsTer26
NM_001257966.1:c.1426del NP_001244895.1:p.Thr476ProfsTer26
NM_201253.2:c.1426del NP_957705.1:p.Thr476ProfsTer26
NR_047563.1:n.1635del
NR_047564.1:n.1635del
XM_011509365.1:c.1426del XP_011507667.1:p.Thr476ProfsTer26
XM_011509366.1:c.1426del XP_011507668.1:p.Thr476ProfsTer26
XM_011509367.1:c.1426del XP_011507669.1:p.Thr476ProfsTer26
XM_011509368.1:c.844del XP_011507670.1:p.Thr282ProfsTer26
XM_011509369.1:c.-132del XP_011507671.1:n.-132del
XM_011509365.2:c.1426del XP_011507667.1:p.Thr476ProfsTer26
XM_011509369.2:c.-132del XP_011507671.1:n.-132del
XM_017000851.1:c.583del XP_016856340.1:p.Thr195ProfsTer26
XM_017000852.1:c.1426del XP_016856341.1:p.Thr476ProfsTer26
NM_201253.3:c.1426del MANE Select NP_957705.1:p.Thr476ProfsTer26
NM_001193640.2:c.1090del NP_001180569.1:p.Thr364ProfsTer26
NM_001257965.2:c.1219del NP_001244894.1:p.Thr407ProfsTer26
NR_047563.2:n.1587del
NR_047564.2:n.1587del
NM_001257966.2:c.1426del NP_001244895.1:p.Thr476ProfsTer26