Canonical Allele Identifier: CA2576090845
Gene: CYBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88646131_88646132del , CM000678.2:g.88646131_88646132del GRCh38
NC_000016.9:g.88712539_88712540del , CM000678.1:g.88712539_88712540del GRCh37
NC_000016.8:g.87240040_87240041del NCBI36
NG_007291.1:g.9919_9920del , LRG_52:g.9919_9920del

Transcript Alleles

HGVS Amino-acid change
ENST00000565588.6:c.354_355del ENSP00000455537.2:p.Ser118ArgfsTer?
ENST00000696156.1:c.270_271del ENSP00000512446.1:p.Ser90ArgfsTer?
ENST00000696157.1:c.354_355del ENSP00000512447.1:p.Ser118ArgfsTer10
ENST00000696158.1:c.354_355del ENSP00000512448.1:p.Ser118ArgfsTer20
ENST00000696159.1:c.354_355del ENSP00000512449.1:p.Ser118ArgfsTer20
ENST00000696160.1:c.354_355del ENSP00000512450.1:p.Ser118ArgfsTer?
ENST00000696161.1:c.484_485del ENSP00000512451.1:p.Arg162AlafsTer?
ENST00000696162.1:c.354_355del ENSP00000512452.1:p.Ser118ArgfsTer20
ENST00000696163.1:c.303_304del ENSP00000512453.1:p.Ser101ArgfsTer?
ENST00000261623.8:c.354_355del MANE Select ENSP00000261623.3:p.Ser118ArgfsTer?
ENST00000261623.7:c.354_355del ENSP00000261623.3:p.Ser118ArgfsTer?
ENST00000563526.5:n.886_887del
ENST00000565588.5:c.138_139del
ENST00000566229.1:c.343_344del ENSP00000457060.1:p.Arg115AlafsTer?
ENST00000566534.5:n.933_934del
ENST00000567174.5:c.354_355del ENSP00000454951.1:p.Ser118ArgfsTer?
ENST00000569359.5:c.354_355del ENSP00000456079.1:p.Ser118ArgfsTer?
NM_000101.3:c.354_355del NP_000092.2:p.Ser118ArgfsTer?
XM_011522905.1:c.354_355del XP_011521207.1:p.Ser118ArgfsTer?
XM_011522905.3:c.354_355del XP_011521207.1:p.Ser118ArgfsTer?
NM_000101.4:c.354_355del MANE Select NP_000092.2:p.Ser118ArgfsTer?