Canonical Allele Identifier: CA2695232456

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783590dup , CM000685.2:g.37783590dup	GRCh38
NC_000023.10:g.37642843dup , CM000685.1:g.37642843dup	GRCh37
NC_000023.9:g.37527787dup	NCBI36
NG_009065.1:g.8574dup , LRG_53:g.8574dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.242dup	ENSP00000512461.1:p.Ser82PhefsTer21
ENST00000696171.1:c.146dup	ENSP00000512462.1:p.Ser50PhefsTer21
ENST00000696172.1:c.242dup	ENSP00000512463.1:p.Ser82PhefsTer21
ENST00000696173.1:n.250dup
ENST00000378588.5:c.242dup MANE Select	ENSP00000367851.4:p.Ser82PhefsTer21
ENST00000378588.4:c.242dup	ENSP00000367851.4:p.Ser82PhefsTer21
ENST00000465127.1:c.171+357590dup	ENSP00000417050.1:n.171+357590dup
NM_000397.3:c.242dup , LRG_53t1:c.242dup	NP_000388.2:p.Ser82PhefsTer21
XM_011543890.1:c.-189dup	XP_011542192.1:n.-189dup
NM_000397.4:c.242dup MANE Select	NP_000388.2:p.Ser82PhefsTer21