Canonical Allele Identifier: CA2241199586

Gene: CYBA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643357_88643358delinsAC , CM000678.2:g.88643357_88643358delinsAC	GRCh38
NC_000016.9:g.88709765_88709766delinsAC , CM000678.1:g.88709765_88709766delinsAC	GRCh37
NC_000016.8:g.87237266_87237267delinsAC	NCBI36
NG_007291.1:g.12692_12693delinsGT , LRG_52:g.12692_12693delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.499_500delinsGT	ENSP00000512446.1:p.Val167=
ENST00000696157.1:c.*800_*801delinsGT	ENSP00000512447.1:n.*800_*801delinsGT
ENST00000696158.1:c.*837_*838delinsGT	ENSP00000512448.1:n.*837_*838delinsGT
ENST00000696159.1:c.*506_*507delinsGT	ENSP00000512449.1:n.*506_*507delinsGT
ENST00000696160.1:c.610_611delinsGT	ENSP00000512450.1:p.Val204=
ENST00000696161.1:c.713_714delinsGT	ENSP00000512451.1:p.Arg238=
ENST00000696162.1:c.*1302_*1303delinsGT	ENSP00000512452.1:n.*1302_*1303delinsGT
ENST00000696163.1:c.532_533delinsGT	ENSP00000512453.1:p.Val178=
ENST00000261623.8:c.583_584delinsGT MANE Select	ENSP00000261623.3:p.Val195=
ENST00000261623.7:c.583_584delinsGT	ENSP00000261623.3:p.Val195=
NM_000101.3:c.583_584delinsGT	NP_000092.2:p.Val195=
NM_000101.4:c.583_584delinsGT MANE Select	NP_000092.2:p.Val195=