Canonical Allele Identifier: CA645509086
Gene: CRB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197427545dup , CM000663.2:g.197427545dup GRCh38
NC_000001.10:g.197396675dup , CM000663.1:g.197396675dup GRCh37
NC_000001.9:g.195663298dup NCBI36
NG_008483.1:g.164268dup
NG_008483.2:g.231084dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367400.8:c.2220dup MANE Select ENSP00000356370.3:p.Met741HisfsTer?
ENST00000638467.1:c.2220dup ENSP00000491102.1:p.Met741HisfsTer?
ENST00000681519.1:c.1101dup ENSP00000505267.1:p.Met368HisfsTer?
ENST00000367397.1:c.363dup ENSP00000356367.1:p.Met122HisfsTer?
ENST00000367399.6:c.1884dup ENSP00000356369.2:p.Met629HisfsTer?
ENST00000367400.7:c.2220dup ENSP00000356370.3:p.Met741HisfsTer?
ENST00000480086.2:n.121dup
ENST00000484075.5:c.2220dup ENSP00000433932.1:p.Met741HisfsTer?
ENST00000535699.5:c.2013dup ENSP00000438786.1:p.Met672HisfsTer?
ENST00000538660.5:c.2128+5589dup ENSP00000438091.1:n.2128+5589dup
NM_001193640.1:c.1884dup NP_001180569.1:p.Met629HisfsTer?
NM_001257965.1:c.2013dup NP_001244894.1:p.Met672HisfsTer?
NM_001257966.1:c.2128+5589dup NP_001244895.1:n.2128+5589dup
NM_201253.2:c.2220dup NP_957705.1:p.Met741HisfsTer?
NR_047563.1:n.2221dup
NR_047564.1:n.2429dup
XM_011509365.1:c.2220dup XP_011507667.1:p.Met741HisfsTer?
XM_011509366.1:c.2220dup XP_011507668.1:p.Met741HisfsTer?
XM_011509367.1:c.2220dup XP_011507669.1:p.Met741HisfsTer?
XM_011509368.1:c.1638dup XP_011507670.1:p.Met547HisfsTer?
XM_011509369.1:c.663dup XP_011507671.1:p.Met222HisfsTer?
XM_011509365.2:c.2220dup XP_011507667.1:p.Met741HisfsTer?
XM_011509369.2:c.663dup XP_011507671.1:p.Met222HisfsTer?
XM_017000851.1:c.1377dup XP_016856340.1:p.Met460HisfsTer?
XM_017000852.1:c.2220dup XP_016856341.1:p.Met741HisfsTer?
NM_201253.3:c.2220dup MANE Select NP_957705.1:p.Met741HisfsTer?
NM_001193640.2:c.1884dup NP_001180569.1:p.Met629HisfsTer?
NM_001257965.2:c.2013dup NP_001244894.1:p.Met672HisfsTer?
NR_047563.2:n.2173dup
NR_047564.2:n.2381dup
NM_001257966.2:c.2128+5589dup NP_001244895.1:n.2128+5589dup