Canonical Allele Identifier: CA2510878745
Gene: CRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197434955_197434956insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT , CM000663.2:g.197434955_197434956insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT GRCh38
NC_000001.10:g.197404085_197404086insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT , CM000663.1:g.197404085_197404086insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT GRCh37
NC_000001.9:g.195670708_195670709insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT NCBI36
NG_008483.1:g.171678_171679insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT
NG_008483.2:g.238494_238495insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.3092_3093insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT MANE Select ENSP00000356370.3:p.Asp1031GlufsTer3
ENST00000638467.1:c.3092_3093insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT ENSP00000491102.1:p.Asp1031GlufsTer3
ENST00000681519.1:c.1973_1974insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT ENSP00000505267.1:p.Asp658GlufsTer3
ENST00000367397.1:c.1235_1236insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT ENSP00000356367.1:p.Asp412GlufsTer3
ENST00000367399.6:c.2756_2757insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT ENSP00000356369.2:p.Asp919GlufsTer3
ENST00000367400.7:c.3092_3093insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT ENSP00000356370.3:p.Asp1031GlufsTer3
ENST00000484075.5:c.3092_3093insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT ENSP00000433932.1:p.Asp1031GlufsTer3
ENST00000535699.5:c.3020_3021insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT ENSP00000438786.1:p.Asp1007GlufsTer3
ENST00000538660.5:c.2129-645_2129-644insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT ENSP00000438091.1:n.2129-645_2129-644insATCTTGAATGCTAATATTAAG...
NM_001193640.1:c.2756_2757insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT NP_001180569.1:p.Asp919GlufsTer3
NM_001257965.1:c.3020_3021insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT NP_001244894.1:p.Asp1007GlufsTer3
NM_001257966.1:c.2129-645_2129-644insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT NP_001244895.1:n.2129-645_2129-644insATCTTGAATGCTAATATTAAGAAA...
NM_201253.2:c.3092_3093insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT NP_957705.1:p.Asp1031GlufsTer3
NR_047563.1:n.3093_3094insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT
NR_047564.1:n.3301_3302insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT
XM_011509365.1:c.3092_3093insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT XP_011507667.1:p.Asp1031GlufsTer3
XM_011509366.1:c.3092_3093insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT XP_011507668.1:p.Asp1031GlufsTer3
XM_011509367.1:c.3092_3093insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT XP_011507669.1:p.Asp1031GlufsTer3
XM_011509368.1:c.2510_2511insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT XP_011507670.1:p.Asp837GlufsTer3
XM_011509369.1:c.1535_1536insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT XP_011507671.1:p.Asp512GlufsTer3
XM_011509365.2:c.3092_3093insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT XP_011507667.1:p.Asp1031GlufsTer3
XM_011509369.2:c.1535_1536insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT XP_011507671.1:p.Asp512GlufsTer3
XM_017000851.1:c.2249_2250insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT XP_016856340.1:p.Asp750GlufsTer3
XM_017000852.1:c.3227_3228insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT XP_016856341.1:p.Asp1076GlufsTer3
NM_201253.3:c.3092_3093insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT MANE Select NP_957705.1:p.Asp1031GlufsTer3
NM_001193640.2:c.2756_2757insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT NP_001180569.1:p.Asp919GlufsTer3
NM_001257965.2:c.3020_3021insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT NP_001244894.1:p.Asp1007GlufsTer3
NR_047563.2:n.3045_3046insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT
NR_047564.2:n.3253_3254insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT
NM_001257966.2:c.2129-645_2129-644insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT NP_001244895.1:n.2129-645_2129-644insATCTTGAATGCTAATATTAAGAAA...