Canonical Allele Identifier: CA2577738832

Gene: CYB5R3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623833_42623834del , CM000684.2:g.42623833_42623834del	GRCh38
NC_000022.10:g.43019839_43019840del , CM000684.1:g.43019839_43019840del	GRCh37
NC_000022.9:g.41349783_41349784del	NCBI36
NG_012194.1:g.30567_30568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.821_822del	ENSP00000354468.5:p.Ser274CysfsTer14
ENST00000402438.6:c.620_621del	ENSP00000385679.1:p.Ser207CysfsTer14
ENST00000407332.6:c.707_708del	ENSP00000384457.2:p.Ser236CysfsTer14
ENST00000407623.8:c.620_621del	ENSP00000384834.3:p.Ser207CysfsTer14
ENST00000617178.5:c.226_227del
ENST00000684963.1:n.2429_2430del
ENST00000685184.1:n.281_282del
ENST00000686523.1:c.*638_*639del	ENSP00000508940.1:n.*638_*639del
ENST00000687183.1:n.965_966del
ENST00000687198.1:c.620_621del	ENSP00000508492.1:p.Ser207CysfsTer14
ENST00000688117.1:c.788_789del	ENSP00000509015.1:p.Ser263CysfsTer14
ENST00000688244.1:c.389_390del	ENSP00000510355.1:p.Ser130CysfsTer14
ENST00000689001.1:n.1311_1312del
ENST00000689195.1:c.605_606del	ENSP00000509895.1:p.Ser202CysfsTer14
ENST00000689239.1:n.856_857del
ENST00000689795.1:n.950_951del
ENST00000690835.1:c.*68_*69del	ENSP00000509038.1:n.*68_*69del
ENST00000690993.1:n.1444_1445del
ENST00000691295.1:c.*172_*173del	ENSP00000508706.1:n.*172_*173del
ENST00000691918.1:c.979_980del	ENSP00000509525.1:n.979_980del
ENST00000692152.1:c.620_621del	ENSP00000509317.1:p.Ser207CysfsTer14
ENST00000692344.1:n.1176_1177del
ENST00000693363.1:c.731_732del	ENSP00000510411.1:p.Ser244CysfsTer14
ENST00000693367.1:c.689_690del	ENSP00000508815.1:p.Ser230CysfsTer14
ENST00000693639.1:c.682_683del	ENSP00000510223.1:n.682_683del
ENST00000693646.1:c.595_596del	ENSP00000508449.1:n.595_596del
ENST00000352397.10:c.689_690del MANE Select	ENSP00000338461.6:p.Ser230CysfsTer14
ENST00000352397.9:c.689_690del	ENSP00000338461.6:p.Ser230CysfsTer14
ENST00000361740.8:c.788_789del	ENSP00000354468.4:p.Ser263CysfsTer14
ENST00000402438.5:c.620_621del	ENSP00000385679.1:p.Ser207CysfsTer14
ENST00000407332.5:c.620_621del	ENSP00000384457.1:p.Ser207CysfsTer14
ENST00000407623.7:c.620_621del	ENSP00000384834.3:p.Ser207CysfsTer14
ENST00000470741.1:n.2823_2824del
NM_000398.6:c.689_690del	NP_000389.1:p.Ser230CysfsTer14
NM_001129819.2:c.620_621del	NP_001123291.1:p.Ser207CysfsTer14
NM_001171660.1:c.788_789del	NP_001165131.1:p.Ser263CysfsTer14
NM_001171661.1:c.620_621del	NP_001165132.1:p.Ser207CysfsTer14
NM_007326.4:c.620_621del	NP_015565.1:p.Ser207CysfsTer14
NM_000398.7:c.689_690del MANE Select	NP_000389.1:p.Ser230CysfsTer14
NM_001171660.2:c.788_789del	NP_001165131.1:p.Ser263CysfsTer14