Canonical Allele Identifier: CA203797
Gene: CRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197435246del , CM000663.2:g.197435246del GRCh38
NC_000001.10:g.197404376del , CM000663.1:g.197404376del GRCh37
NC_000001.9:g.195670999del NCBI36
NG_008483.1:g.171969del
NG_008483.2:g.238785del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.3383del MANE Select ENSP00000356370.3:p.Ile1128ThrfsTer13
ENST00000638467.1:c.3383del ENSP00000491102.1:p.Ile1128ThrfsTer13
ENST00000681519.1:c.2264del ENSP00000505267.1:p.Ile755ThrfsTer13
ENST00000367397.1:c.1526del ENSP00000356367.1:p.Ile509ThrfsTer13
ENST00000367399.6:c.3047del ENSP00000356369.2:p.Ile1016ThrfsTer13
ENST00000367400.7:c.3383del ENSP00000356370.3:p.Ile1128ThrfsTer13
ENST00000484075.5:c.3383del ENSP00000433932.1:p.Ile1128ThrfsTer13
ENST00000535699.5:c.3311del ENSP00000438786.1:p.Ile1104ThrfsTer13
ENST00000538660.5:c.2129-354del ENSP00000438091.1:n.2129-354del
NM_001193640.1:c.3047del NP_001180569.1:p.Ile1016ThrfsTer13
NM_001257965.1:c.3311del NP_001244894.1:p.Ile1104ThrfsTer13
NM_001257966.1:c.2129-354del NP_001244895.1:n.2129-354del
NM_201253.2:c.3383del NP_957705.1:p.Ile1128ThrfsTer13
NR_047563.1:n.3384del
NR_047564.1:n.3592del
XM_011509365.1:c.3383del XP_011507667.1:p.Ile1128ThrfsTer13
XM_011509366.1:c.3383del XP_011507668.1:p.Ile1128ThrfsTer13
XM_011509367.1:c.3383del XP_011507669.1:p.Ile1128ThrfsTer13
XM_011509368.1:c.2801del XP_011507670.1:p.Ile934ThrfsTer13
XM_011509369.1:c.1826del XP_011507671.1:p.Ile609ThrfsTer13
XM_011509365.2:c.3383del XP_011507667.1:p.Ile1128ThrfsTer13
XM_011509369.2:c.1826del XP_011507671.1:p.Ile609ThrfsTer13
XM_017000851.1:c.2540del XP_016856340.1:p.Ile847ThrfsTer13
XM_017000852.1:c.3518del XP_016856341.1:p.Ile1173ThrfsTer13
NM_201253.3:c.3383del MANE Select NP_957705.1:p.Ile1128ThrfsTer13
NM_001193640.2:c.3047del NP_001180569.1:p.Ile1016ThrfsTer13
NM_001257965.2:c.3311del NP_001244894.1:p.Ile1104ThrfsTer13
NR_047563.2:n.3336del
NR_047564.2:n.3544del
NM_001257966.2:c.2129-354del NP_001244895.1:n.2129-354del