Canonical Allele Identifier: CA2695233056

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37795984del , CM000685.2:g.37795984del	GRCh38
NC_000023.10:g.37655237del , CM000685.1:g.37655237del	GRCh37
NC_000023.9:g.37540177del	NCBI36
NG_009065.1:g.20964del , LRG_53:g.20964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.*26del	ENSP00000512461.1:n.*26del
ENST00000696171.1:c.421del	ENSP00000512462.1:p.Leu141CysfsTer16
ENST00000696172.1:c.338-2971del	ENSP00000512463.1:n.338-2971del
ENST00000378588.5:c.517del MANE Select	ENSP00000367851.4:p.Leu173CysfsTer16
ENST00000378588.4:c.517del	ENSP00000367851.4:p.Leu173CysfsTer16
ENST00000465127.1:c.171+369984del	ENSP00000417050.1:n.171+369984del
NM_000397.3:c.517del , LRG_53t1:c.517del	NP_000388.2:p.Leu173CysfsTer16
XM_011543890.1:c.211del	XP_011542192.1:p.Leu71CysfsTer16
NM_000397.4:c.517del MANE Select	NP_000388.2:p.Leu173CysfsTer16