Canonical Allele Identifier: CA2634847718
Gene: CYBA HGNC NCBI

Linked Data

gnomAD v4: 16-88643329-CGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88643331_88643332del , CM000678.2:g.88643331_88643332del GRCh38
NC_000016.9:g.88709739_88709740del , CM000678.1:g.88709739_88709740del GRCh37
NC_000016.8:g.87237240_87237241del NCBI36
NG_007291.1:g.12719_12720del , LRG_52:g.12719_12720del

Transcript Alleles

HGVS Amino-acid change
ENST00000696156.1:c.*22_*23del ENSP00000512446.1:n.*22_*23del
ENST00000696157.1:c.*827_*828del ENSP00000512447.1:n.*827_*828del
ENST00000696158.1:c.*864_*865del ENSP00000512448.1:n.*864_*865del
ENST00000696159.1:c.*533_*534del ENSP00000512449.1:n.*533_*534del
ENST00000696160.1:c.*22_*23del ENSP00000512450.1:n.*22_*23del
ENST00000696161.1:c.740_741del ENSP00000512451.1:p.Pro247ArgfsTer?
ENST00000696162.1:c.*1329_*1330del ENSP00000512452.1:n.*1329_*1330del
ENST00000696163.1:c.*22_*23del ENSP00000512453.1:n.*22_*23del
ENST00000261623.8:c.*22_*23del MANE Select ENSP00000261623.3:n.*22_*23del
ENST00000261623.7:c.*22_*23del ENSP00000261623.3:n.*22_*23del
NM_000101.3:c.*22_*23del NP_000092.2:n.*22_*23del
NM_000101.4:c.*22_*23del MANE Select NP_000092.2:n.*22_*23del
Search 100 bp 5'
Search 100 bp 3'