Canonical Allele Identifier: CA2695233200
Gene: CYBB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37805024del , CM000685.2:g.37805024del GRCh38
NC_000023.10:g.37664277del , CM000685.1:g.37664277del GRCh37
NC_000023.9:g.37549221del NCBI36
NG_009065.1:g.30008del , LRG_53:g.30008del

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*679del ENSP00000512461.1:n.*679del
ENST00000696171.1:c.1074del ENSP00000512462.1:p.Phe359LeufsTer14
ENST00000378588.5:c.1170del MANE Select ENSP00000367851.4:p.Phe391LeufsTer14
ENST00000378588.4:c.1170del ENSP00000367851.4:p.Phe391LeufsTer14
ENST00000465127.1:c.171+379024del ENSP00000417050.1:n.171+379024del
NM_000397.3:c.1170del , LRG_53t1:c.1170del NP_000388.2:p.Phe391LeufsTer14
XM_011543890.1:c.864del XP_011542192.1:p.Phe289LeufsTer14
NM_000397.4:c.1170del MANE Select NP_000388.2:p.Phe391LeufsTer14
Search 100 bp 5'
Search 100 bp 3'