Canonical Allele Identifier: CA213625
Gene: CYBB HGNC NCBI

Linked Data

ClinVar Variation Id: 35967
ClinVar RCV Id: RCV000029623
dbSNP Id: rs193922445
MyVariant Identifiers: chrX:g.37663372dupG (hg19) chrX:g.37804119dupG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37804119dup , CM000685.2:g.37804119dup GRCh38
NC_000023.10:g.37663372dup , CM000685.1:g.37663372dup GRCh37
NC_000023.9:g.37548316dup NCBI36
NG_009065.1:g.29103dup , LRG_53:g.29103dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696170.1:c.*649dup ENSP00000512461.1:n.*649dup
ENST00000696171.1:c.1044dup ENSP00000512462.1:p.Lys349GlufsTer4
ENST00000378588.5:c.1140dup MANE Select ENSP00000367851.4:p.Lys381GlufsTer4
ENST00000378588.4:c.1140dup ENSP00000367851.4:p.Lys381GlufsTer4
ENST00000465127.1:c.171+378119dup ENSP00000417050.1:n.171+378119dup
NM_000397.3:c.1140dup , LRG_53t1:c.1140dup NP_000388.2:p.Lys381GlufsTer4
XM_011543890.1:c.834dup XP_011542192.1:p.Lys279GlufsTer4
NM_000397.4:c.1140dup MANE Select NP_000388.2:p.Lys381GlufsTer4
Search 100 bp 5'
Search 100 bp 3'