Canonical Allele Identifier: CA2695232443

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783543dup , CM000685.2:g.37783543dup	GRCh38
NC_000023.10:g.37642796dup , CM000685.1:g.37642796dup	GRCh37
NC_000023.9:g.37527740dup	NCBI36
NG_009065.1:g.8527dup , LRG_53:g.8527dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.195dup	ENSP00000512461.1:p.Leu66AlafsTer?
ENST00000696171.1:c.99dup	ENSP00000512462.1:p.Leu34AlafsTer?
ENST00000696172.1:c.195dup	ENSP00000512463.1:p.Leu66AlafsTer?
ENST00000696173.1:n.203dup
ENST00000378588.5:c.195dup MANE Select	ENSP00000367851.4:p.Leu66AlafsTer?
ENST00000378588.4:c.195dup	ENSP00000367851.4:p.Leu66AlafsTer?
ENST00000465127.1:c.171+357543dup	ENSP00000417050.1:n.171+357543dup
NM_000397.3:c.195dup , LRG_53t1:c.195dup	NP_000388.2:p.Leu66AlafsTer?
XM_011543890.1:c.-236dup	XP_011542192.1:n.-236dup
NM_000397.4:c.195dup MANE Select	NP_000388.2:p.Leu66AlafsTer?