Canonical Allele Identifier: CA2695233064
Gene: CYBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37796040_37796048dup , CM000685.2:g.37796040_37796048dup GRCh38
NC_000023.10:g.37655293_37655301dup , CM000685.1:g.37655293_37655301dup GRCh37
NC_000023.9:g.37540233_37540241dup NCBI36
NG_009065.1:g.21020_21028dup , LRG_53:g.21020_21028dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*82_*90dup ENSP00000512461.1:n.*82_*90dup
ENST00000696171.1:c.477_485dup ENSP00000512462.1:p.Thr162_Lys163insSerSerThr
ENST00000696172.1:c.338-2915_338-2907dup ENSP00000512463.1:n.338-2915_338-2907dup
ENST00000378588.5:c.573_581dup MANE Select ENSP00000367851.4:p.Thr194_Lys195insSerSerThr
ENST00000378588.4:c.573_581dup ENSP00000367851.4:p.Thr194_Lys195insSerSerThr
ENST00000465127.1:c.171+370040_171+370048dup ENSP00000417050.1:n.171+370040_171+370048dup
NM_000397.3:c.573_581dup , LRG_53t1:c.573_581dup NP_000388.2:p.Thr194_Lys195insSerSerThr
XM_011543890.1:c.267_275dup XP_011542192.1:p.Thr92_Lys93insSerSerThr
NM_000397.4:c.573_581dup MANE Select NP_000388.2:p.Thr194_Lys195insSerSerThr