Canonical Allele Identifier: CA2649669874
Gene: CRB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197421413dup , CM000663.2:g.197421413dup GRCh38
NC_000001.10:g.197390543dup , CM000663.1:g.197390543dup GRCh37
NC_000001.9:g.195657166dup NCBI36
NG_008483.1:g.158136dup
NG_008483.2:g.224952dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.1585dup MANE Select ENSP00000356370.3:p.Arg529LysfsTer22
ENST00000638467.1:c.1585dup ENSP00000491102.1:p.Arg529LysfsTer22
ENST00000681519.1:c.466dup ENSP00000505267.1:p.Arg156LysfsTer22
ENST00000367397.1:c.-273dup ENSP00000356367.1:n.-273dup
ENST00000367399.6:c.1249dup ENSP00000356369.2:p.Arg417LysfsTer22
ENST00000367400.7:c.1585dup ENSP00000356370.3:p.Arg529LysfsTer22
ENST00000476483.1:n.545dup
ENST00000484075.5:c.1585dup ENSP00000433932.1:p.Arg529LysfsTer22
ENST00000535699.5:c.1378dup ENSP00000438786.1:p.Arg460LysfsTer22
ENST00000538660.5:c.1585dup ENSP00000438091.1:p.Arg529LysfsTer22
NM_001193640.1:c.1249dup NP_001180569.1:p.Arg417LysfsTer22
NM_001257965.1:c.1378dup NP_001244894.1:p.Arg460LysfsTer22
NM_001257966.1:c.1585dup NP_001244895.1:p.Arg529LysfsTer22
NM_201253.2:c.1585dup NP_957705.1:p.Arg529LysfsTer22
NR_047563.1:n.1794dup
NR_047564.1:n.1794dup
XM_011509365.1:c.1585dup XP_011507667.1:p.Arg529LysfsTer22
XM_011509366.1:c.1585dup XP_011507668.1:p.Arg529LysfsTer22
XM_011509367.1:c.1585dup XP_011507669.1:p.Arg529LysfsTer22
XM_011509368.1:c.1003dup XP_011507670.1:p.Arg335LysfsTer22
XM_011509369.1:c.28dup XP_011507671.1:p.Arg10LysfsTer22
XM_011509365.2:c.1585dup XP_011507667.1:p.Arg529LysfsTer22
XM_011509369.2:c.28dup XP_011507671.1:p.Arg10LysfsTer22
XM_017000851.1:c.742dup XP_016856340.1:p.Arg248LysfsTer22
XM_017000852.1:c.1585dup XP_016856341.1:p.Arg529LysfsTer22
NM_201253.3:c.1585dup MANE Select NP_957705.1:p.Arg529LysfsTer22
NM_001193640.2:c.1249dup NP_001180569.1:p.Arg417LysfsTer22
NM_001257965.2:c.1378dup NP_001244894.1:p.Arg460LysfsTer22
NR_047563.2:n.1746dup
NR_047564.2:n.1746dup
NM_001257966.2:c.1585dup NP_001244895.1:p.Arg529LysfsTer22