Canonical Allele Identifier: CA2695233161

Gene: CYBB

Linked Data

• ClinVar Variation Id: 2737188
• ClinVar RCV Id: RCV003509049

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37804017del , CM000685.2:g.37804017del	GRCh38
NC_000023.10:g.37663270del , CM000685.1:g.37663270del	GRCh37
NC_000023.9:g.37548214del	NCBI36
NG_009065.1:g.29001del , LRG_53:g.29001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*547del	ENSP00000512461.1:n.*547del
ENST00000696171.1:c.942del	ENSP00000512462.1:p.Glu315ArgfsTer?
ENST00000378588.5:c.1038del MANE Select	ENSP00000367851.4:p.Glu347ArgfsTer?
ENST00000378588.4:c.1038del	ENSP00000367851.4:p.Glu347ArgfsTer?
ENST00000465127.1:c.171+378017del	ENSP00000417050.1:n.171+378017del
ENST00000492288.1:n.463del
NM_000397.3:c.1038del , LRG_53t1:c.1038del	NP_000388.2:p.Glu347ArgfsTer?
XM_011543890.1:c.732del	XP_011542192.1:p.Glu245ArgfsTer?
NM_000397.4:c.1038del MANE Select	NP_000388.2:p.Glu347ArgfsTer?