Canonical Allele Identifier: CA121259

Gene: CYBB

Linked Data

• ClinVar Variation Id: 10940
• ClinVar RCV Id: RCV000011687
• dbSNP Id: rs387906486
• MyVariant Identifiers: chrX:g.37641385_37641387delinsGGT (hg19) ; chrX:g.37782132_37782134delinsGGT (hg38)
• PubMed: PMID:15308575

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37782132_37782134delinsGGT , CM000685.2:g.37782132_37782134delinsGGT	GRCh38
NC_000023.10:g.37641385_37641387delinsGGT , CM000685.1:g.37641385_37641387delinsGGT	GRCh37
NC_000023.9:g.37526329_37526331delinsGGT	NCBI36
NG_009065.1:g.7116_7118delinsGGT , LRG_53:g.7116_7118delinsGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.90_92delinsGGT	ENSP00000512461.1:p.Tyr30Ter
ENST00000696171.1:c.46-1358_46-1356delinsGGT	ENSP00000512462.1:n.46-1358_46-1356delinsGGT
ENST00000696172.1:c.90_92delinsGGT	ENSP00000512463.1:p.Tyr30Ter
ENST00000696173.1:n.98_100delinsGGT
ENST00000378588.5:c.90_92delinsGGT MANE Select	ENSP00000367851.4:p.Tyr30Ter
ENST00000378588.4:c.90_92delinsGGT	ENSP00000367851.4:p.Tyr30Ter
ENST00000465127.1:c.171+356132_171+356134delinsGGT	ENSP00000417050.1:n.171+356132_171+356134delinsGGT
NM_000397.3:c.90_92delinsGGT , LRG_53t1:c.90_92delinsGGT	NP_000388.2:p.Tyr30Ter
XM_011543890.1:c.-341_-339delinsGGT	XP_011542192.1:n.-341_-339delinsGGT
NM_000397.4:c.90_92delinsGGT MANE Select	NP_000388.2:p.Tyr30Ter