Canonical Allele Identifier: CA10269568
Community Standard Title: NM_000398.7(CYB5R3):c.830dup (p.Pro278ThrfsTer?)
Gene: CYB5R3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42619854dup , CM000684.2:g.42619854dup GRCh38
NC_000022.10:g.43015860dup , CM000684.1:g.43015860dup GRCh37
NC_000022.9:g.41345804dup NCBI36
NG_012194.1:g.34551dup

Transcript Alleles

HGVS Amino-acid Change
NM_000398.7:c.830dup MANE Select NP_000389.1:p.Pro278ThrfsTer?
ENST00000352397.10:c.830dup MANE Select ENSP00000338461.6:p.Pro278ThrfsTer?
NM_000398.6:c.830dup NP_000389.1:p.Pro278ThrfsTer?
NM_001129819.2:c.761dup NP_001123291.1:p.Pro255ThrfsTer?
NM_001171660.1:c.929dup NP_001165131.1:p.Pro311ThrfsTer?
NM_001171660.2:c.929dup NP_001165131.1:p.Pro311ThrfsTer?
NM_001171661.1:c.761dup NP_001165132.1:p.Pro255ThrfsTer?
NM_007326.4:c.761dup NP_015565.1:p.Pro255ThrfsTer?
ENST00000352397.9:c.830dup ENSP00000338461.6:p.Pro278ThrfsTer?
ENST00000361740.8:c.929dup ENSP00000354468.4:p.Pro311ThrfsTer?
ENST00000361740.9:c.962dup ENSP00000354468.5:p.Pro322ThrfsTer?
ENST00000402438.5:c.761dup ENSP00000385679.1:p.Pro255ThrfsTer?
ENST00000402438.6:c.761dup ENSP00000385679.1:p.Pro255ThrfsTer?
ENST00000407332.5:c.761dup ENSP00000384457.1:p.Pro255ThrfsTer?
ENST00000407332.6:c.848dup ENSP00000384457.2:p.Pro284ThrfsTer?
ENST00000407623.7:c.761dup ENSP00000384834.3:p.Pro255ThrfsTer?
ENST00000407623.8:c.761dup ENSP00000384834.3:p.Pro255ThrfsTer?
ENST00000470741.1:n.2964dup
ENST00000617178.5:c.367dup
ENST00000684963.1:n.2570dup
ENST00000685184.1:n.422dup
ENST00000686523.1:c.*779dup ENSP00000508940.1:n.*779dup
ENST00000687183.1:n.1106dup
ENST00000687198.1:c.761dup ENSP00000508492.1:p.Pro255ThrfsTer?
ENST00000688117.1:c.929dup ENSP00000509015.1:p.Pro311ThrfsTer?
ENST00000688244.1:c.530dup ENSP00000510355.1:p.Pro178ThrfsTer?
ENST00000689001.1:n.1452dup
ENST00000689195.1:c.746dup ENSP00000509895.1:p.Pro250ThrfsTer?
ENST00000689239.1:n.997dup
ENST00000689795.1:n.1091dup
ENST00000690835.1:c.*209dup ENSP00000509038.1:n.*209dup
ENST00000690993.1:n.1585dup
ENST00000691295.1:c.*313dup ENSP00000508706.1:n.*313dup
ENST00000692152.1:c.761dup ENSP00000509317.1:p.Pro255ThrfsTer?
ENST00000692344.1:n.1317dup
ENST00000693363.1:c.872dup ENSP00000510411.1:p.Pro292ThrfsTer?
ENST00000693367.1:c.830dup ENSP00000508815.1:p.Pro278ThrfsTer19