Canonical Allele Identifier: CA2512487455

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37796104_37796105insAATAATCC , CM000685.2:g.37796104_37796105insAATAATCC	GRCh38
NC_000023.10:g.37655357_37655358insAATAATCC , CM000685.1:g.37655357_37655358insAATAATCC	GRCh37
NC_000023.9:g.37540297_37540298insAATAATCC	NCBI36
NG_009065.1:g.21084_21085insAATAATCC , LRG_53:g.21084_21085insAATAATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*146_*147insAATAATCC	ENSP00000512461.1:n.*146_*147insAATAATCC
ENST00000696171.1:c.541_542insAATAATCC	ENSP00000512462.1:p.Val181GlufsTer2
ENST00000696172.1:c.338-2851_338-2850insAATAATCC	ENSP00000512463.1:n.338-2851_338-2850insAATAATCC
ENST00000378588.5:c.637_638insAATAATCC MANE Select	ENSP00000367851.4:p.Val213GlufsTer2
ENST00000378588.4:c.637_638insAATAATCC	ENSP00000367851.4:p.Val213GlufsTer2
ENST00000465127.1:c.171+370104_171+370105insAATAATCC	ENSP00000417050.1:n.171+370104_171+370105insAATAATCC
NM_000397.3:c.637_638insAATAATCC , LRG_53t1:c.637_638insAATAATCC	NP_000388.2:p.Val213GlufsTer2
XM_011543890.1:c.331_332insAATAATCC	XP_011542192.1:p.Val111GlufsTer2
NM_000397.4:c.637_638insAATAATCC MANE Select	NP_000388.2:p.Val213GlufsTer2