Canonical Allele Identifier: CA2695233158
Gene: CYBB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804003_37804005delinsT , CM000685.2:g.37804003_37804005delinsT GRCh38
NC_000023.10:g.37663256_37663258delinsT , CM000685.1:g.37663256_37663258delinsT GRCh37
NC_000023.9:g.37548200_37548202delinsT NCBI36
NG_009065.1:g.28987_28989delinsT , LRG_53:g.28987_28989delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*533_*535delinsT ENSP00000512461.1:n.*533_*535delinsT
ENST00000696171.1:c.928_930delinsT ENSP00000512462.1:p.Leu310TyrfsTer5
ENST00000378588.5:c.1024_1026delinsT MANE Select ENSP00000367851.4:p.Leu342TyrfsTer5
ENST00000378588.4:c.1024_1026delinsT ENSP00000367851.4:p.Leu342TyrfsTer5
ENST00000465127.1:c.171+378003_171+378005delinsT ENSP00000417050.1:n.171+378003_171+378005delinsT
ENST00000492288.1:n.449_451delinsT
NM_000397.3:c.1024_1026delinsT , LRG_53t1:c.1024_1026delinsT NP_000388.2:p.Leu342TyrfsTer5
XM_011543890.1:c.718_720delinsT XP_011542192.1:p.Leu240TyrfsTer5
NM_000397.4:c.1024_1026delinsT MANE Select NP_000388.2:p.Leu342TyrfsTer5
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