Canonical Allele Identifier: CA2695223831
Gene: CYBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88643339_88643372del , CM000678.2:g.88643339_88643372del GRCh38
NC_000016.9:g.88709747_88709780del , CM000678.1:g.88709747_88709780del GRCh37
NC_000016.8:g.87237248_87237281del NCBI36
NG_007291.1:g.12680_12713del , LRG_52:g.12680_12713del

Transcript Alleles

HGVS Amino-acid change
ENST00000696156.1:c.487_*16del ENSP00000512446.1:n.[c.487_*16del;Thr163P...
ENST00000696157.1:c.*788_*821del ENSP00000512447.1:n.*788_*821del
ENST00000696158.1:c.*825_*858del ENSP00000512448.1:n.*825_*858del
ENST00000696159.1:c.*494_*527del ENSP00000512449.1:n.*494_*527del
ENST00000696160.1:c.598_*16del ENSP00000512450.1:n.[c.598_*16del;Thr200P...
ENST00000696161.1:c.701_734del ENSP00000512451.1:p.Asp234AlafsTer?
ENST00000696162.1:c.*1290_*1323del ENSP00000512452.1:n.*1290_*1323del
ENST00000696163.1:c.520_*16del ENSP00000512453.1:n.[c.520_*16del;Thr174P...
ENST00000261623.8:c.571_*16del MANE Select ENSP00000261623.3:n.[c.571_*16del;Thr191P...
ENST00000261623.7:c.571_*16del ENSP00000261623.3:n.[c.571_*16del;Thr191P...
NM_000101.3:c.571_*16del NP_000092.2:n.[c.571_*16del;Thr191ProfsTe...
NM_000101.4:c.571_*16del MANE Select NP_000092.2:n.[c.571_*16del;Thr191ProfsTe...