Canonical Allele Identifier: CA658795576
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 446253
dbSNP Id: rs1553260321

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197421259del , CM000663.2:g.197421259del GRCh38
NC_000001.10:g.197390389del , CM000663.1:g.197390389del GRCh37
NC_000001.9:g.195657012del NCBI36
NG_008483.1:g.157982del
NG_008483.2:g.224798del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.1431del MANE Select ENSP00000356370.3:p.Ser478ProfsTer24
ENST00000638467.1:c.1431del ENSP00000491102.1:p.Ser478ProfsTer24
ENST00000681519.1:c.312del ENSP00000505267.1:p.Ser105ProfsTer24
ENST00000367397.1:c.-427del ENSP00000356367.1:n.-427del
ENST00000367399.6:c.1095del ENSP00000356369.2:p.Ser366ProfsTer24
ENST00000367400.7:c.1431del ENSP00000356370.3:p.Ser478ProfsTer24
ENST00000476483.1:n.391del
ENST00000484075.5:c.1431del ENSP00000433932.1:p.Ser478ProfsTer24
ENST00000535699.5:c.1224del ENSP00000438786.1:p.Ser409ProfsTer24
ENST00000538660.5:c.1431del ENSP00000438091.1:p.Ser478ProfsTer24
NM_001193640.1:c.1095del NP_001180569.1:p.Ser366ProfsTer24
NM_001257965.1:c.1224del NP_001244894.1:p.Ser409ProfsTer24
NM_001257966.1:c.1431del NP_001244895.1:p.Ser478ProfsTer24
NM_201253.2:c.1431del NP_957705.1:p.Ser478ProfsTer24
NR_047563.1:n.1640del
NR_047564.1:n.1640del
XM_011509365.1:c.1431del XP_011507667.1:p.Ser478ProfsTer24
XM_011509366.1:c.1431del XP_011507668.1:p.Ser478ProfsTer24
XM_011509367.1:c.1431del XP_011507669.1:p.Ser478ProfsTer24
XM_011509368.1:c.849del XP_011507670.1:p.Ser284ProfsTer24
XM_011509369.1:c.-127del XP_011507671.1:n.-127del
XM_011509365.2:c.1431del XP_011507667.1:p.Ser478ProfsTer24
XM_011509369.2:c.-127del XP_011507671.1:n.-127del
XM_017000851.1:c.588del XP_016856340.1:p.Ser197ProfsTer24
XM_017000852.1:c.1431del XP_016856341.1:p.Ser478ProfsTer24
NM_201253.3:c.1431del MANE Select NP_957705.1:p.Ser478ProfsTer24
NM_001193640.2:c.1095del NP_001180569.1:p.Ser366ProfsTer24
NM_001257965.2:c.1224del NP_001244894.1:p.Ser409ProfsTer24
NR_047563.2:n.1592del
NR_047564.2:n.1592del
NM_001257966.2:c.1431del NP_001244895.1:p.Ser478ProfsTer24