Canonical Allele Identifier: CA2695233163
Gene: CYBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804028dup , CM000685.2:g.37804028dup GRCh38
NC_000023.10:g.37663281dup , CM000685.1:g.37663281dup GRCh37
NC_000023.9:g.37548225dup NCBI36
NG_009065.1:g.29012dup , LRG_53:g.29012dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*558dup ENSP00000512461.1:n.*558dup
ENST00000696171.1:c.953dup ENSP00000512462.1:p.Phe319LeufsTer2
ENST00000378588.5:c.1049dup MANE Select ENSP00000367851.4:p.Phe351LeufsTer2
ENST00000378588.4:c.1049dup ENSP00000367851.4:p.Phe351LeufsTer2
ENST00000465127.1:c.171+378028dup ENSP00000417050.1:n.171+378028dup
ENST00000492288.1:n.474dup
NM_000397.3:c.1049dup , LRG_53t1:c.1049dup NP_000388.2:p.Phe351LeufsTer2
XM_011543890.1:c.743dup XP_011542192.1:p.Phe249LeufsTer2
NM_000397.4:c.1049dup MANE Select NP_000388.2:p.Phe351LeufsTer2
Search 100 bp 5'
Search 100 bp 3'