Canonical Allele Identifier: CA2649670637
Gene: CRB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197434770dup , CM000663.2:g.197434770dup GRCh38
NC_000001.10:g.197403900dup , CM000663.1:g.197403900dup GRCh37
NC_000001.9:g.195670523dup NCBI36
NG_008483.1:g.171493dup
NG_008483.2:g.238309dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2907dup MANE Select ENSP00000356370.3:p.Thr970TyrfsTer28
ENST00000638467.1:c.2907dup ENSP00000491102.1:p.Thr970TyrfsTer28
ENST00000681519.1:c.1788dup ENSP00000505267.1:p.Thr597TyrfsTer28
ENST00000367397.1:c.1050dup ENSP00000356367.1:p.Thr351TyrfsTer28
ENST00000367399.6:c.2571dup ENSP00000356369.2:p.Thr858TyrfsTer28
ENST00000367400.7:c.2907dup ENSP00000356370.3:p.Thr970TyrfsTer28
ENST00000484075.5:c.2907dup ENSP00000433932.1:p.Thr970TyrfsTer28
ENST00000535699.5:c.2835dup ENSP00000438786.1:p.Thr946TyrfsTer28
ENST00000538660.5:c.2129-830dup ENSP00000438091.1:n.2129-830dup
NM_001193640.1:c.2571dup NP_001180569.1:p.Thr858TyrfsTer28
NM_001257965.1:c.2835dup NP_001244894.1:p.Thr946TyrfsTer28
NM_001257966.1:c.2129-830dup NP_001244895.1:n.2129-830dup
NM_201253.2:c.2907dup NP_957705.1:p.Thr970TyrfsTer28
NR_047563.1:n.2908dup
NR_047564.1:n.3116dup
XM_011509365.1:c.2907dup XP_011507667.1:p.Thr970TyrfsTer28
XM_011509366.1:c.2907dup XP_011507668.1:p.Thr970TyrfsTer28
XM_011509367.1:c.2907dup XP_011507669.1:p.Thr970TyrfsTer28
XM_011509368.1:c.2325dup XP_011507670.1:p.Thr776TyrfsTer28
XM_011509369.1:c.1350dup XP_011507671.1:p.Thr451TyrfsTer28
XM_011509365.2:c.2907dup XP_011507667.1:p.Thr970TyrfsTer28
XM_011509369.2:c.1350dup XP_011507671.1:p.Thr451TyrfsTer28
XM_017000851.1:c.2064dup XP_016856340.1:p.Thr689TyrfsTer28
XM_017000852.1:c.3042dup XP_016856341.1:p.Thr1015TyrfsTer28
NM_201253.3:c.2907dup MANE Select NP_957705.1:p.Thr970TyrfsTer28
NM_001193640.2:c.2571dup NP_001180569.1:p.Thr858TyrfsTer28
NM_001257965.2:c.2835dup NP_001244894.1:p.Thr946TyrfsTer28
NR_047563.2:n.2860dup
NR_047564.2:n.3068dup
NM_001257966.2:c.2129-830dup NP_001244895.1:n.2129-830dup