Canonical Allele Identifier: CA2634847731
Gene: CYBA HGNC NCBI

Linked Data

gnomAD v4: 16-88643338-AGGT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88643339_88643341del , CM000678.2:g.88643339_88643341del GRCh38
NC_000016.9:g.88709747_88709749del , CM000678.1:g.88709747_88709749del GRCh37
NC_000016.8:g.87237248_87237250del NCBI36
NG_007291.1:g.12709_12711del , LRG_52:g.12709_12711del

Transcript Alleles

HGVS Amino-acid change
ENST00000696156.1:c.*12_*14del ENSP00000512446.1:n.*12_*14del
ENST00000696157.1:c.*817_*819del ENSP00000512447.1:n.*817_*819del
ENST00000696158.1:c.*854_*856del ENSP00000512448.1:n.*854_*856del
ENST00000696159.1:c.*523_*525del ENSP00000512449.1:n.*523_*525del
ENST00000696160.1:c.*12_*14del ENSP00000512450.1:n.*12_*14del
ENST00000696161.1:c.730_732del ENSP00000512451.1:p.Thr244del
ENST00000696162.1:c.*1319_*1321del ENSP00000512452.1:n.*1319_*1321del
ENST00000696163.1:c.*12_*14del ENSP00000512453.1:n.*12_*14del
ENST00000261623.8:c.*12_*14del MANE Select ENSP00000261623.3:n.*12_*14del
ENST00000261623.7:c.*12_*14del ENSP00000261623.3:n.*12_*14del
NM_000101.3:c.*12_*14del NP_000092.2:n.*12_*14del
NM_000101.4:c.*12_*14del MANE Select NP_000092.2:n.*12_*14del
Search 100 bp 5'
Search 100 bp 3'