Canonical Allele Identifier: CA658799713

Gene: CYBB

Linked Data

• ClinVar Variation Id: 503616
• ClinVar RCV Id: RCV000599175 ; RCV002532686
• dbSNP Id: rs1556470775
• MyVariant Identifiers: chrX:g.37663192del (hg19) ; chrX:g.37803939del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37803939del , CM000685.2:g.37803939del	GRCh38
NC_000023.10:g.37663192del , CM000685.1:g.37663192del	GRCh37
NC_000023.9:g.37548136del	NCBI36
NG_009065.1:g.28923del , LRG_53:g.28923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*469del	ENSP00000512461.1:n.*469del
ENST00000696171.1:c.864del	ENSP00000512462.1:p.Val289TrpfsTer22
ENST00000378588.5:c.960del MANE Select	ENSP00000367851.4:p.Val321TrpfsTer22
ENST00000378588.4:c.960del	ENSP00000367851.4:p.Val321TrpfsTer22
ENST00000465127.1:c.171+377939del	ENSP00000417050.1:n.171+377939del
ENST00000492288.1:n.385del
NM_000397.3:c.960del , LRG_53t1:c.960del	NP_000388.2:p.Val321TrpfsTer22
XM_011543890.1:c.654del	XP_011542192.1:p.Val219TrpfsTer22
NM_000397.4:c.960del MANE Select	NP_000388.2:p.Val321TrpfsTer22