Canonical Allele Identifier: CA8228158

Gene: CYBA

Linked Data

• dbSNP Id: rs752127800
• ExAC: 16:88709741 AG / A
• gnomAD v2: 16-88709741-AG-A
• gnomAD v4: 16-88643333-AG-A
• MyVariant Identifiers: chr16:g.88709742del (hg19) ; chr16:g.88643334del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643336del , CM000678.2:g.88643336del	GRCh38
NC_000016.9:g.88709744del , CM000678.1:g.88709744del	GRCh37
NC_000016.8:g.87237245del	NCBI36
NG_007291.1:g.12716del , LRG_52:g.12716del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696156.1:c.*19del	ENSP00000512446.1:n.*19del
ENST00000696157.1:c.*824del	ENSP00000512447.1:n.*824del
ENST00000696158.1:c.*861del	ENSP00000512448.1:n.*861del
ENST00000696159.1:c.*530del	ENSP00000512449.1:n.*530del
ENST00000696160.1:c.*19del	ENSP00000512450.1:n.*19del
ENST00000696161.1:c.737del	ENSP00000512451.1:p.Pro246LeufsTer?
ENST00000696162.1:c.*1326del	ENSP00000512452.1:n.*1326del
ENST00000696163.1:c.*19del	ENSP00000512453.1:n.*19del
ENST00000261623.8:c.*19del MANE Select	ENSP00000261623.3:n.*19del
ENST00000261623.7:c.*19del	ENSP00000261623.3:n.*19del
NM_000101.3:c.*19del	NP_000092.2:n.*19del
NM_000101.4:c.*19del MANE Select	NP_000092.2:n.*19del