Canonical Allele Identifier: CA1139656486
Gene: CRB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 813044
ClinVar RCV Id: RCV001199474
dbSNP Id: rs1664301074

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197421311del , CM000663.2:g.197421311del GRCh38
NC_000001.10:g.197390441del , CM000663.1:g.197390441del GRCh37
NC_000001.9:g.195657064del NCBI36
NG_008483.1:g.158034del
NG_008483.2:g.224850del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.1483del MANE Select ENSP00000356370.3:p.Trp495GlyfsTer7
ENST00000638467.1:c.1483del ENSP00000491102.1:p.Trp495GlyfsTer7
ENST00000681519.1:c.364del ENSP00000505267.1:p.Trp122GlyfsTer7
ENST00000367397.1:c.-375del ENSP00000356367.1:n.-375del
ENST00000367399.6:c.1147del ENSP00000356369.2:p.Trp383GlyfsTer7
ENST00000367400.7:c.1483del ENSP00000356370.3:p.Trp495GlyfsTer7
ENST00000476483.1:n.443del
ENST00000484075.5:c.1483del ENSP00000433932.1:p.Trp495GlyfsTer7
ENST00000535699.5:c.1276del ENSP00000438786.1:p.Trp426GlyfsTer7
ENST00000538660.5:c.1483del ENSP00000438091.1:p.Trp495GlyfsTer7
NM_001193640.1:c.1147del NP_001180569.1:p.Trp383GlyfsTer7
NM_001257965.1:c.1276del NP_001244894.1:p.Trp426GlyfsTer7
NM_001257966.1:c.1483del NP_001244895.1:p.Trp495GlyfsTer7
NM_201253.2:c.1483del NP_957705.1:p.Trp495GlyfsTer7
NR_047563.1:n.1692del
NR_047564.1:n.1692del
XM_011509365.1:c.1483del XP_011507667.1:p.Trp495GlyfsTer7
XM_011509366.1:c.1483del XP_011507668.1:p.Trp495GlyfsTer7
XM_011509367.1:c.1483del XP_011507669.1:p.Trp495GlyfsTer7
XM_011509368.1:c.901del XP_011507670.1:p.Trp301GlyfsTer7
XM_011509369.1:c.-75del XP_011507671.1:n.-75del
XM_011509365.2:c.1483del XP_011507667.1:p.Trp495GlyfsTer7
XM_011509369.2:c.-75del XP_011507671.1:n.-75del
XM_017000851.1:c.640del XP_016856340.1:p.Trp214GlyfsTer7
XM_017000852.1:c.1483del XP_016856341.1:p.Trp495GlyfsTer7
NM_201253.3:c.1483del MANE Select NP_957705.1:p.Trp495GlyfsTer7
NM_001193640.2:c.1147del NP_001180569.1:p.Trp383GlyfsTer7
NM_001257965.2:c.1276del NP_001244894.1:p.Trp426GlyfsTer7
NR_047563.2:n.1644del
NR_047564.2:n.1644del
NM_001257966.2:c.1483del NP_001244895.1:p.Trp495GlyfsTer7