Canonical Allele Identifier: CA913190353
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 623130
ClinVar RCV Id: RCV000761230
dbSNP Id: rs1569480031
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37805091dup , CM000685.2:g.37805091dup GRCh38
NC_000023.10:g.37664344dup , CM000685.1:g.37664344dup GRCh37
NC_000023.9:g.37549288dup NCBI36
NG_009065.1:g.30075dup , LRG_53:g.30075dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696170.1:c.*746dup ENSP00000512461.1:n.*746dup
ENST00000696171.1:c.1141dup ENSP00000512462.1:p.Val381GlyfsTer18
ENST00000378588.5:c.1237dup MANE Select ENSP00000367851.4:p.Val413GlyfsTer18
ENST00000378588.4:c.1237dup ENSP00000367851.4:p.Val413GlyfsTer18
ENST00000465127.1:c.171+379091dup ENSP00000417050.1:n.171+379091dup
NM_000397.3:c.1237dup , LRG_53t1:c.1237dup NP_000388.2:p.Val413GlyfsTer18
XM_011543890.1:c.931dup XP_011542192.1:p.Val311GlyfsTer18
NM_000397.4:c.1237dup MANE Select NP_000388.2:p.Val413GlyfsTer18
Search 100 bp 5'
Search 100 bp 3'