Canonical Allele Identifier: CA16603291
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377183
dbSNP Id: rs1057520152

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197442275del , CM000663.2:g.197442275del GRCh38
NC_000001.10:g.197411405del , CM000663.1:g.197411405del GRCh37
NC_000001.9:g.195678028del NCBI36
NG_008483.1:g.178998del
NG_008483.2:g.245814del

Transcript Alleles

HGVS Amino-acid change
ENST00000367400.8:c.3988del MANE Select ENSP00000356370.3:p.Glu1330SerfsTer11
ENST00000638467.1:c.3988del ENSP00000491102.1:p.Glu1330SerfsTer7
ENST00000681519.1:c.2869del ENSP00000505267.1:p.Glu957SerfsTer7
ENST00000367397.1:c.*3596del ENSP00000356367.1:n.*3596del
ENST00000367399.6:c.3652del ENSP00000356369.2:p.Glu1218SerfsTer11
ENST00000367400.7:c.3988del ENSP00000356370.3:p.Glu1330SerfsTer11
ENST00000448952.1:c.106del ENSP00000395407.1:p.Glu36SerfsTer20
ENST00000484075.5:c.3988del ENSP00000433932.1:p.Glu1330SerfsTer7
ENST00000535699.5:c.3916del ENSP00000438786.1:p.Glu1306SerfsTer11
ENST00000538660.5:c.2380del ENSP00000438091.1:p.Glu794SerfsTer11
NM_001193640.1:c.3652del NP_001180569.1:p.Glu1218SerfsTer11
NM_001257965.1:c.3916del NP_001244894.1:p.Glu1306SerfsTer11
NM_001257966.1:c.2380del NP_001244895.1:p.Glu794SerfsTer11
NM_201253.2:c.3988del NP_957705.1:p.Glu1330SerfsTer11
NR_047563.1:n.3989del
NR_047564.1:n.4197del
XM_011509365.1:c.3988del XP_011507667.1:p.Glu1330SerfsTer?
XM_011509366.1:c.3988del XP_011507668.1:p.Glu1330SerfsTer20
XM_011509367.1:c.3878+3600del XP_011507669.1:n.3878+3600del
XM_011509368.1:c.3406del XP_011507670.1:p.Glu1136SerfsTer11
XM_011509369.1:c.2431del XP_011507671.1:p.Glu811SerfsTer11
XM_011509365.2:c.3988del XP_011507667.1:p.Glu1330SerfsTer?
XM_011509369.2:c.2431del XP_011507671.1:p.Glu811SerfsTer11
XM_017000851.1:c.3145del XP_016856340.1:p.Glu1049SerfsTer11
XM_017000852.1:c.4123del XP_016856341.1:p.Glu1375SerfsTer11
NM_201253.3:c.3988del MANE Select NP_957705.1:p.Glu1330SerfsTer11
NM_001193640.2:c.3652del NP_001180569.1:p.Glu1218SerfsTer11
NM_001257965.2:c.3916del NP_001244894.1:p.Glu1306SerfsTer11
NR_047563.2:n.3941del
NR_047564.2:n.4149del
NM_001257966.2:c.2380del NP_001244895.1:p.Glu794SerfsTer11