Canonical Allele Identifier: CA658658976

Gene: CYBB

Linked Data

• ClinVar Variation Id: 449009
• ClinVar RCV Id: RCV000522573
• dbSNP Id: rs1556464882
• MyVariant Identifiers: chrX:g.37642811dup (hg19) ; chrX:g.37783558dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783558dup , CM000685.2:g.37783558dup	GRCh38
NC_000023.10:g.37642811dup , CM000685.1:g.37642811dup	GRCh37
NC_000023.9:g.37527755dup	NCBI36
NG_009065.1:g.8542dup , LRG_53:g.8542dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.210dup	ENSP00000512461.1:p.Val71SerfsTer?
ENST00000696171.1:c.114dup	ENSP00000512462.1:p.Val39SerfsTer?
ENST00000696172.1:c.210dup	ENSP00000512463.1:p.Val71SerfsTer?
ENST00000696173.1:n.218dup
ENST00000378588.5:c.210dup MANE Select	ENSP00000367851.4:p.Val71SerfsTer?
ENST00000378588.4:c.210dup	ENSP00000367851.4:p.Val71SerfsTer?
ENST00000465127.1:c.171+357558dup	ENSP00000417050.1:n.171+357558dup
NM_000397.3:c.210dup , LRG_53t1:c.210dup	NP_000388.2:p.Val71SerfsTer?
XM_011543890.1:c.-221dup	XP_011542192.1:n.-221dup
NM_000397.4:c.210dup MANE Select	NP_000388.2:p.Val71SerfsTer?