Canonical Allele Identifier: CA2649670189
Gene: CRB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427885del , CM000663.2:g.197427885del GRCh38
NC_000001.10:g.197397015del , CM000663.1:g.197397015del GRCh37
NC_000001.9:g.195663638del NCBI36
NG_008483.1:g.164608del
NG_008483.2:g.231424del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2560del MANE Select ENSP00000356370.3:p.Asp854MetfsTer2
ENST00000638467.1:c.2560del ENSP00000491102.1:p.Asp854MetfsTer2
ENST00000681519.1:c.1441del ENSP00000505267.1:p.Asp481MetfsTer2
ENST00000367397.1:c.703del ENSP00000356367.1:p.Asp235MetfsTer2
ENST00000367399.6:c.2224del ENSP00000356369.2:p.Asp742MetfsTer2
ENST00000367400.7:c.2560del ENSP00000356370.3:p.Asp854MetfsTer2
ENST00000484075.5:c.2560del ENSP00000433932.1:p.Asp854MetfsTer2
ENST00000535699.5:c.2353del ENSP00000438786.1:p.Asp785MetfsTer2
ENST00000538660.5:c.2128+5929del ENSP00000438091.1:n.2128+5929del
NM_001193640.1:c.2224del NP_001180569.1:p.Asp742MetfsTer2
NM_001257965.1:c.2353del NP_001244894.1:p.Asp785MetfsTer2
NM_001257966.1:c.2128+5929del NP_001244895.1:n.2128+5929del
NM_201253.2:c.2560del NP_957705.1:p.Asp854MetfsTer2
NR_047563.1:n.2561del
NR_047564.1:n.2769del
XM_011509365.1:c.2560del XP_011507667.1:p.Asp854MetfsTer2
XM_011509366.1:c.2560del XP_011507668.1:p.Asp854MetfsTer2
XM_011509367.1:c.2560del XP_011507669.1:p.Asp854MetfsTer2
XM_011509368.1:c.1978del XP_011507670.1:p.Asp660MetfsTer2
XM_011509369.1:c.1003del XP_011507671.1:p.Asp335MetfsTer2
XM_011509365.2:c.2560del XP_011507667.1:p.Asp854MetfsTer2
XM_011509369.2:c.1003del XP_011507671.1:p.Asp335MetfsTer2
XM_017000851.1:c.1717del XP_016856340.1:p.Asp573MetfsTer2
XM_017000852.1:c.2560del XP_016856341.1:p.Asp854MetfsTer2
NM_201253.3:c.2560del MANE Select NP_957705.1:p.Asp854MetfsTer2
NM_001193640.2:c.2224del NP_001180569.1:p.Asp742MetfsTer2
NM_001257965.2:c.2353del NP_001244894.1:p.Asp785MetfsTer2
NR_047563.2:n.2513del
NR_047564.2:n.2721del
NM_001257966.2:c.2128+5929del NP_001244895.1:n.2128+5929del