Canonical Allele Identifier: CA2733020671
Gene: CYBA HGNC NCBI

Linked Data

dbSNP Id: rs2142876056

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88647128del , CM000678.2:g.88647128del GRCh38
NC_000016.9:g.88713536del , CM000678.1:g.88713536del GRCh37
NC_000016.8:g.87241037del NCBI36
NG_007291.1:g.8923del , LRG_52:g.8923del

Transcript Alleles

HGVS Amino-acid Change
ENST00000565588.6:c.177del ENSP00000455537.2:p.Lys60ArgfsTer14
ENST00000696156.1:c.177del ENSP00000512446.1:p.Lys60ArgfsTer?
ENST00000696157.1:c.177del ENSP00000512447.1:p.Lys60ArgfsTer14
ENST00000696158.1:c.177del ENSP00000512448.1:p.Lys60ArgfsTer14
ENST00000696159.1:c.177del ENSP00000512449.1:p.Lys60ArgfsTer14
ENST00000696160.1:c.177del ENSP00000512450.1:p.Lys60ArgfsTer14
ENST00000696161.1:c.177del ENSP00000512451.1:p.Lys60ArgfsTer?
ENST00000696162.1:c.177del ENSP00000512452.1:p.Lys60ArgfsTer14
ENST00000696163.1:c.177del ENSP00000512453.1:p.Lys60ArgfsTer?
ENST00000261623.8:c.177del MANE Select ENSP00000261623.3:p.Lys60ArgfsTer14
ENST00000261623.7:c.177del ENSP00000261623.3:p.Lys60ArgfsTer14
ENST00000562209.1:n.195del
ENST00000563526.5:n.152del
ENST00000566229.1:c.166del ENSP00000457060.1:p.Glu56LysfsTer?
ENST00000566534.5:n.199del
ENST00000567174.5:c.177del ENSP00000454951.1:p.Lys60ArgfsTer14
ENST00000568278.1:c.177del ENSP00000455506.1:p.Lys60ArgfsTer14
ENST00000569359.5:c.177del ENSP00000456079.1:p.Lys60ArgfsTer14
NM_000101.3:c.177del NP_000092.2:p.Lys60ArgfsTer14
XM_011522905.1:c.177del XP_011521207.1:p.Lys60ArgfsTer14
XM_011522905.3:c.177del XP_011521207.1:p.Lys60ArgfsTer14
NM_000101.4:c.177del MANE Select NP_000092.2:p.Lys60ArgfsTer14