Canonical Allele Identifier: CA2649670116
Gene: CRB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427634dup , CM000663.2:g.197427634dup GRCh38
NC_000001.10:g.197396764dup , CM000663.1:g.197396764dup GRCh37
NC_000001.9:g.195663387dup NCBI36
NG_008483.1:g.164357dup
NG_008483.2:g.231173dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2309dup MANE Select ENSP00000356370.3:p.Arg771GlnfsTer19
ENST00000638467.1:c.2309dup ENSP00000491102.1:p.Arg771GlnfsTer19
ENST00000681519.1:c.1190dup ENSP00000505267.1:p.Arg398GlnfsTer19
ENST00000367397.1:c.452dup ENSP00000356367.1:p.Arg152GlnfsTer19
ENST00000367399.6:c.1973dup ENSP00000356369.2:p.Arg659GlnfsTer19
ENST00000367400.7:c.2309dup ENSP00000356370.3:p.Arg771GlnfsTer19
ENST00000480086.2:n.210dup
ENST00000484075.5:c.2309dup ENSP00000433932.1:p.Arg771GlnfsTer19
ENST00000535699.5:c.2102dup ENSP00000438786.1:p.Arg702GlnfsTer19
ENST00000538660.5:c.2128+5678dup ENSP00000438091.1:n.2128+5678dup
NM_001193640.1:c.1973dup NP_001180569.1:p.Arg659GlnfsTer19
NM_001257965.1:c.2102dup NP_001244894.1:p.Arg702GlnfsTer19
NM_001257966.1:c.2128+5678dup NP_001244895.1:n.2128+5678dup
NM_201253.2:c.2309dup NP_957705.1:p.Arg771GlnfsTer19
NR_047563.1:n.2310dup
NR_047564.1:n.2518dup
XM_011509365.1:c.2309dup XP_011507667.1:p.Arg771GlnfsTer19
XM_011509366.1:c.2309dup XP_011507668.1:p.Arg771GlnfsTer19
XM_011509367.1:c.2309dup XP_011507669.1:p.Arg771GlnfsTer19
XM_011509368.1:c.1727dup XP_011507670.1:p.Arg577GlnfsTer19
XM_011509369.1:c.752dup XP_011507671.1:p.Arg252GlnfsTer19
XM_011509365.2:c.2309dup XP_011507667.1:p.Arg771GlnfsTer19
XM_011509369.2:c.752dup XP_011507671.1:p.Arg252GlnfsTer19
XM_017000851.1:c.1466dup XP_016856340.1:p.Arg490GlnfsTer19
XM_017000852.1:c.2309dup XP_016856341.1:p.Arg771GlnfsTer19
NM_201253.3:c.2309dup MANE Select NP_957705.1:p.Arg771GlnfsTer19
NM_001193640.2:c.1973dup NP_001180569.1:p.Arg659GlnfsTer19
NM_001257965.2:c.2102dup NP_001244894.1:p.Arg702GlnfsTer19
NR_047563.2:n.2262dup
NR_047564.2:n.2470dup
NM_001257966.2:c.2128+5678dup NP_001244895.1:n.2128+5678dup