Canonical Allele Identifier: CA2649669870
Gene: CRB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197421091_197421092del , CM000663.2:g.197421091_197421092del GRCh38
NC_000001.10:g.197390221_197390222del , CM000663.1:g.197390221_197390222del GRCh37
NC_000001.9:g.195656844_195656845del NCBI36
NG_008483.1:g.157814_157815del
NG_008483.2:g.224630_224631del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.1263_1264del MANE Select ENSP00000356370.3:p.Cys421Ter
ENST00000638467.1:c.1263_1264del ENSP00000491102.1:p.Cys421Ter
ENST00000681519.1:c.144_145del ENSP00000505267.1:p.Cys48Ter
ENST00000367397.1:c.-595_-594del ENSP00000356367.1:n.-595_-594del
ENST00000367399.6:c.927_928del ENSP00000356369.2:p.Cys309Ter
ENST00000367400.7:c.1263_1264del ENSP00000356370.3:p.Cys421Ter
ENST00000476483.1:n.223_224del
ENST00000484075.5:c.1263_1264del ENSP00000433932.1:p.Cys421Ter
ENST00000535699.5:c.1056_1057del ENSP00000438786.1:p.Cys352Ter
ENST00000538660.5:c.1263_1264del ENSP00000438091.1:p.Cys421Ter
NM_001193640.1:c.927_928del NP_001180569.1:p.Cys309Ter
NM_001257965.1:c.1056_1057del NP_001244894.1:p.Cys352Ter
NM_001257966.1:c.1263_1264del NP_001244895.1:p.Cys421Ter
NM_201253.2:c.1263_1264del NP_957705.1:p.Cys421Ter
NR_047563.1:n.1472_1473del
NR_047564.1:n.1472_1473del
XM_011509365.1:c.1263_1264del XP_011507667.1:p.Cys421Ter
XM_011509366.1:c.1263_1264del XP_011507668.1:p.Cys421Ter
XM_011509367.1:c.1263_1264del XP_011507669.1:p.Cys421Ter
XM_011509368.1:c.681_682del XP_011507670.1:p.Cys227Ter
XM_011509369.1:c.-295_-294del XP_011507671.1:n.-295_-294del
XM_011509365.2:c.1263_1264del XP_011507667.1:p.Cys421Ter
XM_011509369.2:c.-295_-294del XP_011507671.1:n.-295_-294del
XM_017000851.1:c.420_421del XP_016856340.1:p.Cys140Ter
XM_017000852.1:c.1263_1264del XP_016856341.1:p.Cys421Ter
NM_201253.3:c.1263_1264del MANE Select NP_957705.1:p.Cys421Ter
NM_001193640.2:c.927_928del NP_001180569.1:p.Cys309Ter
NM_001257965.2:c.1056_1057del NP_001244894.1:p.Cys352Ter
NR_047563.2:n.1424_1425del
NR_047564.2:n.1424_1425del
NM_001257966.2:c.1263_1264del NP_001244895.1:p.Cys421Ter