Canonical Allele Identifier: CA2747249571
Gene: CRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197478086_197478089dup , CM000663.2:g.197478086_197478089dup GRCh38
NC_000001.10:g.197447216_197447219dup , CM000663.1:g.197447216_197447219dup GRCh37
NC_000001.9:g.195713839_195713842dup NCBI36
NG_008483.1:g.214809_214812dup
NG_008483.2:g.281625_281628dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.*207_*210dup MANE Select ENSP00000356370.3:n.*207_*210dup
ENST00000367400.7:c.*207_*210dup ENSP00000356370.3:n.*207_*210dup
ENST00000448952.1:c.662_665dup ENSP00000395407.1:n.662_665dup
ENST00000484075.5:c.*539_*542dup ENSP00000433932.1:n.*539_*542dup
ENST00000535699.5:c.*207_*210dup ENSP00000438786.1:n.*207_*210dup
ENST00000538660.5:c.*207_*210dup ENSP00000438091.1:n.*207_*210dup
NM_001193640.1:c.*207_*210dup NP_001180569.1:n.*207_*210dup
NM_001257965.1:c.*207_*210dup NP_001244894.1:n.*207_*210dup
NM_001257966.1:c.*207_*210dup NP_001244895.1:n.*207_*210dup
NM_201253.2:c.*207_*210dup NP_957705.1:n.*207_*210dup
NR_047563.1:n.4429_4432dup
NR_047564.1:n.4879_4882dup
XM_011509366.1:c.*533_*536dup XP_011507668.1:n.*533_*536dup
XM_011509367.1:c.*407_*410dup XP_011507669.1:n.*407_*410dup
XM_011509368.1:c.*207_*210dup XP_011507670.1:n.*207_*210dup
XM_011509369.1:c.*207_*210dup XP_011507671.1:n.*207_*210dup
XM_011509369.2:c.*207_*210dup XP_011507671.1:n.*207_*210dup
XM_017000851.1:c.*207_*210dup XP_016856340.1:n.*207_*210dup
XM_017000852.1:c.*207_*210dup XP_016856341.1:n.*207_*210dup
NM_201253.3:c.*207_*210dup MANE Select NP_957705.1:n.*207_*210dup
NM_001193640.2:c.*207_*210dup NP_001180569.1:n.*207_*210dup
NM_001257965.2:c.*207_*210dup NP_001244894.1:n.*207_*210dup
NR_047563.2:n.4381_4384dup
NR_047564.2:n.4831_4834dup
NM_001257966.2:c.*207_*210dup NP_001244895.1:n.*207_*210dup