Canonical Allele Identifier: CA916081976

Gene: CYBB

Linked Data

• ClinVar Variation Id: 842892
• ClinVar RCV Id: RCV001045393
• dbSNP Id: rs1929497736

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803885_37803888del , CM000685.2:g.37803885_37803888del	GRCh38
NC_000023.10:g.37663138_37663141del , CM000685.1:g.37663138_37663141del	GRCh37
NC_000023.9:g.37548082_37548085del	NCBI36
NG_009065.1:g.28869_28872del , LRG_53:g.28869_28872del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*415_*418del	ENSP00000512461.1:n.*415_*418del
ENST00000696171.1:c.810_813del	ENSP00000512462.1:p.His271LeufsTer9
ENST00000378588.5:c.906_909del MANE Select	ENSP00000367851.4:p.His303LeufsTer9
ENST00000378588.4:c.906_909del	ENSP00000367851.4:p.His303LeufsTer9
ENST00000465127.1:c.171+377885_171+377888del	ENSP00000417050.1:n.171+377885_171+377888...
ENST00000492288.1:n.331_334del
NM_000397.3:c.906_909del , LRG_53t1:c.906_909del	NP_000388.2:p.His303LeufsTer9
XM_011543890.1:c.600_603del	XP_011542192.1:p.His201LeufsTer9
NM_000397.4:c.906_909del MANE Select	NP_000388.2:p.His303LeufsTer9