Canonical Allele Identifier: CA2695233101

Gene: CYBB

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37799020_37799021delinsT , CM000685.2:g.37799020_37799021delinsT	GRCh38
NC_000023.10:g.37658273_37658274delinsT , CM000685.1:g.37658273_37658274delinsT	GRCh37
NC_000023.9:g.37543213_37543214delinsT	NCBI36
NG_009065.1:g.24000_24001delinsT , LRG_53:g.24000_24001delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696170.1:c.*249_*250delinsT	ENSP00000512461.1:n.*249_*250delinsT
ENST00000696171.1:c.644_645delinsT	ENSP00000512462.1:p.Lys215IlefsTer8
ENST00000696172.1:c.*16_*17delinsT	ENSP00000512463.1:n.*16_*17delinsT
ENST00000378588.5:c.740_741delinsT MANE Select	ENSP00000367851.4:p.Lys247IlefsTer8
ENST00000378588.4:c.740_741delinsT	ENSP00000367851.4:p.Lys247IlefsTer8
ENST00000465127.1:c.171+373020_171+373021delinsT	ENSP00000417050.1:n.171+373020_171+373021delinsT
ENST00000492288.1:n.165_166delinsT
NM_000397.3:c.740_741delinsT , LRG_53t1:c.740_741delinsT	NP_000388.2:p.Lys247IlefsTer8
XM_011543890.1:c.434_435delinsT	XP_011542192.1:p.Lys145IlefsTer8
NM_000397.4:c.740_741delinsT MANE Select	NP_000388.2:p.Lys247IlefsTer8