Canonical Allele Identifier: CA236376
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 191264
ClinVar RCV Id: RCV000171454 RCV001257865
dbSNP Id: rs786205610
MyVariant Identifiers: chr1:g.197396781_197396787del (hg19) chr1:g.197427651_197427657del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427655_197427661del , CM000663.2:g.197427655_197427661del GRCh38
NC_000001.10:g.197396785_197396791del , CM000663.1:g.197396785_197396791del GRCh37
NC_000001.9:g.195663408_195663414del NCBI36
NG_008483.1:g.164378_164384del
NG_008483.2:g.231194_231200del

Transcript Alleles

HGVS Amino-acid change
ENST00000367400.8:c.2330_2336del MANE Select ENSP00000356370.3:p.Pro777LeufsTer4
ENST00000638467.1:c.2330_2336del ENSP00000491102.1:p.Pro777LeufsTer4
ENST00000681519.1:c.1211_1217del ENSP00000505267.1:p.Pro404LeufsTer4
ENST00000367397.1:c.473_479del ENSP00000356367.1:p.Pro158LeufsTer4
ENST00000367399.6:c.1994_2000del ENSP00000356369.2:p.Pro665LeufsTer4
ENST00000367400.7:c.2330_2336del ENSP00000356370.3:p.Pro777LeufsTer4
ENST00000480086.2:n.231_237del
ENST00000484075.5:c.2330_2336del ENSP00000433932.1:p.Pro777LeufsTer4
ENST00000535699.5:c.2123_2129del ENSP00000438786.1:p.Pro708LeufsTer4
ENST00000538660.5:c.2128+5699_2128+5705del ENSP00000438091.1:n.2128+5699_2128+5705de...
NM_001193640.1:c.1994_2000del NP_001180569.1:p.Pro665LeufsTer4
NM_001257965.1:c.2123_2129del NP_001244894.1:p.Pro708LeufsTer4
NM_001257966.1:c.2128+5699_2128+5705del NP_001244895.1:n.2128+5699_2128+5705del
NM_201253.2:c.2330_2336del NP_957705.1:p.Pro777LeufsTer4
NR_047563.1:n.2331_2337del
NR_047564.1:n.2539_2545del
XM_011509365.1:c.2330_2336del XP_011507667.1:p.Pro777LeufsTer4
XM_011509366.1:c.2330_2336del XP_011507668.1:p.Pro777LeufsTer4
XM_011509367.1:c.2330_2336del XP_011507669.1:p.Pro777LeufsTer4
XM_011509368.1:c.1748_1754del XP_011507670.1:p.Pro583LeufsTer4
XM_011509369.1:c.773_779del XP_011507671.1:p.Pro258LeufsTer4
XM_011509365.2:c.2330_2336del XP_011507667.1:p.Pro777LeufsTer4
XM_011509369.2:c.773_779del XP_011507671.1:p.Pro258LeufsTer4
XM_017000851.1:c.1487_1493del XP_016856340.1:p.Pro496LeufsTer4
XM_017000852.1:c.2330_2336del XP_016856341.1:p.Pro777LeufsTer4
NM_201253.3:c.2330_2336del MANE Select NP_957705.1:p.Pro777LeufsTer4
NM_001193640.2:c.1994_2000del NP_001180569.1:p.Pro665LeufsTer4
NM_001257965.2:c.2123_2129del NP_001244894.1:p.Pro708LeufsTer4
NR_047563.2:n.2283_2289del
NR_047564.2:n.2491_2497del
NM_001257966.2:c.2128+5699_2128+5705del NP_001244895.1:n.2128+5699_2128+5705del
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