Canonical Allele Identifier: CA212839
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5740
dbSNP Id: rs281865175

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197477779_197477788del , CM000663.2:g.197477779_197477788del GRCh38
NC_000001.10:g.197446909_197446918del , CM000663.1:g.197446909_197446918del GRCh37
NC_000001.9:g.195713532_195713541del NCBI36
NG_008483.1:g.214502_214511del
NG_008483.2:g.281318_281327del

Transcript Alleles

HGVS Amino-acid change
ENST00000367400.8:c.4121_4130del MANE Select ENSP00000356370.3:p.Ala1374GlufsTer20
ENST00000367399.6:c.3785_3794del ENSP00000356369.2:p.Ala1262GlufsTer20
ENST00000367400.7:c.4121_4130del ENSP00000356370.3:p.Ala1374GlufsTer20
ENST00000448952.1:c.355_364del ENSP00000395407.1:n.355_364del
ENST00000484075.5:c.*232_*241del ENSP00000433932.1:n.*232_*241del
ENST00000535699.5:c.4049_4058del ENSP00000438786.1:p.Ala1350GlufsTer20
ENST00000538660.5:c.2513_2522del ENSP00000438091.1:p.Ala838GlufsTer20
NM_001193640.1:c.3785_3794del NP_001180569.1:p.Ala1262GlufsTer20
NM_001257965.1:c.4049_4058del NP_001244894.1:p.Ala1350GlufsTer20
NM_001257966.1:c.2513_2522del NP_001244895.1:p.Ala838GlufsTer20
NM_201253.2:c.4121_4130del NP_957705.1:p.Ala1374GlufsTer20
NR_047563.1:n.4122_4131del
NR_047564.1:n.4572_4581del
XM_011509366.1:c.*226_*235del XP_011507668.1:n.*226_*235del
XM_011509367.1:c.*100_*109del XP_011507669.1:n.*100_*109del
XM_011509368.1:c.3539_3548del XP_011507670.1:p.Ala1180GlufsTer20
XM_011509369.1:c.2564_2573del XP_011507671.1:p.Ala855GlufsTer20
XM_011509369.2:c.2564_2573del XP_011507671.1:p.Ala855GlufsTer20
XM_017000851.1:c.3278_3287del XP_016856340.1:p.Ala1093GlufsTer20
XM_017000852.1:c.4256_4265del XP_016856341.1:p.Ala1419GlufsTer20
NM_201253.3:c.4121_4130del MANE Select NP_957705.1:p.Ala1374GlufsTer20
NM_001193640.2:c.3785_3794del NP_001180569.1:p.Ala1262GlufsTer20
NM_001257965.2:c.4049_4058del NP_001244894.1:p.Ala1350GlufsTer20
NR_047563.2:n.4074_4083del
NR_047564.2:n.4524_4533del
NM_001257966.2:c.2513_2522del NP_001244895.1:p.Ala838GlufsTer20