Canonical Allele Identifier: CA2657075230

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623831-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623832del , CM000684.2:g.42623832del	GRCh38
NC_000022.10:g.43019838del , CM000684.1:g.43019838del	GRCh37
NC_000022.9:g.41349782del	NCBI36
NG_012194.1:g.30568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.822del	ENSP00000354468.5:p.Ala275HisfsTer23
ENST00000402438.6:c.621del	ENSP00000385679.1:p.Ala208HisfsTer23
ENST00000407332.6:c.708del	ENSP00000384457.2:p.Ala237HisfsTer23
ENST00000407623.8:c.621del	ENSP00000384834.3:p.Ala208HisfsTer23
ENST00000617178.5:c.227del
ENST00000684963.1:n.2430del
ENST00000685184.1:n.282del
ENST00000686523.1:c.*639del	ENSP00000508940.1:n.*639del
ENST00000687183.1:n.966del
ENST00000687198.1:c.621del	ENSP00000508492.1:p.Ala208HisfsTer23
ENST00000688117.1:c.789del	ENSP00000509015.1:p.Ala264HisfsTer23
ENST00000688244.1:c.390del	ENSP00000510355.1:p.Ala131HisfsTer23
ENST00000689001.1:n.1312del
ENST00000689195.1:c.606del	ENSP00000509895.1:p.Ala203HisfsTer23
ENST00000689239.1:n.857del
ENST00000689795.1:n.951del
ENST00000690835.1:c.*69del	ENSP00000509038.1:n.*69del
ENST00000690993.1:n.1445del
ENST00000691295.1:c.*173del	ENSP00000508706.1:n.*173del
ENST00000691918.1:c.980del	ENSP00000509525.1:n.980del
ENST00000692152.1:c.621del	ENSP00000509317.1:p.Ala208HisfsTer23
ENST00000692344.1:n.1177del
ENST00000693363.1:c.732del	ENSP00000510411.1:p.Ala245HisfsTer23
ENST00000693367.1:c.690del	ENSP00000508815.1:p.Ala231HisfsTer23
ENST00000693639.1:c.683del	ENSP00000510223.1:n.683del
ENST00000693646.1:c.596del	ENSP00000508449.1:n.596del
ENST00000352397.10:c.690del MANE Select	ENSP00000338461.6:p.Ala231HisfsTer23
ENST00000352397.9:c.690del	ENSP00000338461.6:p.Ala231HisfsTer23
ENST00000361740.8:c.789del	ENSP00000354468.4:p.Ala264HisfsTer23
ENST00000402438.5:c.621del	ENSP00000385679.1:p.Ala208HisfsTer23
ENST00000407332.5:c.621del	ENSP00000384457.1:p.Ala208HisfsTer23
ENST00000407623.7:c.621del	ENSP00000384834.3:p.Ala208HisfsTer23
ENST00000470741.1:n.2824del
NM_000398.6:c.690del	NP_000389.1:p.Ala231HisfsTer23
NM_001129819.2:c.621del	NP_001123291.1:p.Ala208HisfsTer23
NM_001171660.1:c.789del	NP_001165131.1:p.Ala264HisfsTer23
NM_001171661.1:c.621del	NP_001165132.1:p.Ala208HisfsTer23
NM_007326.4:c.621del	NP_015565.1:p.Ala208HisfsTer23
NM_000398.7:c.690del MANE Select	NP_000389.1:p.Ala231HisfsTer23
NM_001171660.2:c.789del	NP_001165131.1:p.Ala264HisfsTer23