Canonical Allele Identifier: CA2695232453

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783574del , CM000685.2:g.37783574del	GRCh38
NC_000023.10:g.37642827del , CM000685.1:g.37642827del	GRCh37
NC_000023.9:g.37527771del	NCBI36
NG_009065.1:g.8558del , LRG_53:g.8558del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.226del	ENSP00000512461.1:p.Leu76CysfsTer?
ENST00000696171.1:c.130del	ENSP00000512462.1:p.Leu44CysfsTer?
ENST00000696172.1:c.226del	ENSP00000512463.1:p.Leu76CysfsTer?
ENST00000696173.1:n.234del
ENST00000378588.5:c.226del MANE Select	ENSP00000367851.4:p.Leu76CysfsTer?
ENST00000378588.4:c.226del	ENSP00000367851.4:p.Leu76CysfsTer?
ENST00000465127.1:c.171+357574del	ENSP00000417050.1:n.171+357574del
NM_000397.3:c.226del , LRG_53t1:c.226del	NP_000388.2:p.Leu76CysfsTer?
XM_011543890.1:c.-205del	XP_011542192.1:n.-205del
NM_000397.4:c.226del MANE Select	NP_000388.2:p.Leu76CysfsTer?