Canonical Allele Identifier: CA2551263766

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42628202-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628203del , CM000684.2:g.42628203del	GRCh38
NC_000022.10:g.43024209del , CM000684.1:g.43024209del	GRCh37
NC_000022.9:g.41354153del	NCBI36
NG_012194.1:g.26197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.412del	ENSP00000354468.5:p.Asp138ThrfsTer?
ENST00000402438.6:c.343del	ENSP00000385679.1:p.Asp115ThrfsTer?
ENST00000407332.6:c.430del	ENSP00000384457.2:p.Asp144ThrfsTer?
ENST00000407623.8:c.343del	ENSP00000384834.3:p.Asp115ThrfsTer?
ENST00000438270.2:c.343del	ENSP00000403439.2:p.Asp115ThrfsTer?
ENST00000684963.1:n.1689del
ENST00000686129.1:c.343del	ENSP00000508623.1:p.Asp115ThrfsTer?
ENST00000686523.1:c.*361del	ENSP00000508940.1:n.*361del
ENST00000687183.1:n.473del
ENST00000687198.1:c.343del	ENSP00000508492.1:p.Asp115ThrfsTer?
ENST00000688117.1:c.511del	ENSP00000509015.1:p.Asp171ThrfsTer?
ENST00000688244.1:c.333+2679del	ENSP00000510355.1:n.333+2679del
ENST00000689001.1:n.819del
ENST00000689195.1:c.412del	ENSP00000509895.1:p.Asp138ThrfsTer25
ENST00000689239.1:n.579del
ENST00000689795.1:n.574del
ENST00000690835.1:c.412del	ENSP00000509038.1:p.Asp138ThrfsTer?
ENST00000690993.1:n.489del
ENST00000691295.1:c.334-515del	ENSP00000508706.1:n.334-515del
ENST00000691918.1:c.391del	ENSP00000509525.1:p.Asp131ThrfsTer?
ENST00000692152.1:c.343del	ENSP00000509317.1:p.Asp115ThrfsTer?
ENST00000692344.1:n.436del
ENST00000693157.1:c.332del	ENSP00000510610.1:n.332del
ENST00000693363.1:c.412del	ENSP00000510411.1:p.Asp138ThrfsTer?
ENST00000693367.1:c.412del	ENSP00000508815.1:p.Asp138ThrfsTer?
ENST00000693639.1:c.405del	ENSP00000510223.1:p.Thr136HisfsTer3
ENST00000693646.1:c.318del	ENSP00000508449.1:p.Thr107HisfsTer3
ENST00000352397.10:c.412del MANE Select	ENSP00000338461.6:p.Asp138ThrfsTer?
ENST00000352397.9:c.412del	ENSP00000338461.6:p.Asp138ThrfsTer?
ENST00000361740.8:c.511del	ENSP00000354468.4:p.Asp171ThrfsTer?
ENST00000402438.5:c.343del	ENSP00000385679.1:p.Asp115ThrfsTer?
ENST00000407332.5:c.343del	ENSP00000384457.1:p.Asp115ThrfsTer?
ENST00000407623.7:c.343del	ENSP00000384834.3:p.Asp115ThrfsTer?
ENST00000438270.1:c.343del	ENSP00000403439.1:p.Asp115ThrfsTer?
ENST00000470741.1:n.2546del
NM_000398.6:c.412del	NP_000389.1:p.Asp138ThrfsTer?
NM_001129819.2:c.343del	NP_001123291.1:p.Asp115ThrfsTer?
NM_001171660.1:c.511del	NP_001165131.1:p.Asp171ThrfsTer?
NM_001171661.1:c.343del	NP_001165132.1:p.Asp115ThrfsTer?
NM_007326.4:c.343del	NP_015565.1:p.Asp115ThrfsTer?
NM_000398.7:c.412del MANE Select	NP_000389.1:p.Asp138ThrfsTer?
NM_001171660.2:c.511del	NP_001165131.1:p.Asp171ThrfsTer?