Canonical Allele Identifier: CA2695232449

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783563_37783564del , CM000685.2:g.37783563_37783564del	GRCh38
NC_000023.10:g.37642816_37642817del , CM000685.1:g.37642816_37642817del	GRCh37
NC_000023.9:g.37527760_37527761del	NCBI36
NG_009065.1:g.8547_8548del , LRG_53:g.8547_8548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.215_216del	ENSP00000512461.1:p.Cys72SerfsTer30
ENST00000696171.1:c.119_120del	ENSP00000512462.1:p.Cys40SerfsTer30
ENST00000696172.1:c.215_216del	ENSP00000512463.1:p.Cys72SerfsTer30
ENST00000696173.1:n.223_224del
ENST00000378588.5:c.215_216del MANE Select	ENSP00000367851.4:p.Cys72SerfsTer30
ENST00000378588.4:c.215_216del	ENSP00000367851.4:p.Cys72SerfsTer30
ENST00000465127.1:c.171+357563_171+357564del	ENSP00000417050.1:n.171+357563_171+357564del
NM_000397.3:c.215_216del , LRG_53t1:c.215_216del	NP_000388.2:p.Cys72SerfsTer30
XM_011543890.1:c.-216_-215del	XP_011542192.1:n.-216_-215del
NM_000397.4:c.215_216del MANE Select	NP_000388.2:p.Cys72SerfsTer30