Canonical Allele Identifier: CA1139664861
Community Standard Title: NM_000101.4(CYBA):c.422_427del (p.Arg141_Pro142del)
Gene: CYBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88643516_88643521del , CM000678.2:g.88643516_88643521del GRCh38
NC_000016.9:g.88709924_88709929del , CM000678.1:g.88709924_88709929del GRCh37
NC_000016.8:g.87237425_87237430del NCBI36
NG_007291.1:g.12531_12536del , LRG_52:g.12531_12536del

Transcript Alleles

HGVS Amino-acid Change
NM_000101.4:c.422_427del MANE Select NP_000092.2:p.Arg141_Pro142del
ENST00000261623.8:c.422_427del MANE Select ENSP00000261623.3:p.Arg141_Pro142del
NM_000101.3:c.422_427del NP_000092.2:p.Arg141_Pro142del
ENST00000261623.7:c.422_427del ENSP00000261623.3:p.Arg141_Pro142del
ENST00000565588.5:c.216_221del
ENST00000565588.6:c.432_437del ENSP00000455537.2:p.Ala144_Ala145del
ENST00000566534.5:n.1001_1006del
ENST00000696156.1:c.338_343del ENSP00000512446.1:p.Arg113_Pro114del
ENST00000696157.1:c.*639_*644del ENSP00000512447.1:n.*639_*644del
ENST00000696158.1:c.*676_*681del ENSP00000512448.1:n.*676_*681del
ENST00000696159.1:c.*345_*350del ENSP00000512449.1:n.*345_*350del
ENST00000696160.1:c.449_454del ENSP00000512450.1:p.Arg150_Pro151del
ENST00000696161.1:c.552_557del ENSP00000512451.1:p.Ala185_Ala186del
ENST00000696162.1:c.*1141_*1146del ENSP00000512452.1:n.*1141_*1146del
ENST00000696163.1:c.371_376del ENSP00000512453.1:p.Arg124_Pro125del