Canonical Allele Identifier: CA2577738956

Gene: CYB5R3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628183del , CM000684.2:g.42628183del	GRCh38
NC_000022.10:g.43024189del , CM000684.1:g.43024189del	GRCh37
NC_000022.9:g.41354133del	NCBI36
NG_012194.1:g.26220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.435del	ENSP00000354468.5:p.Ser146ValfsTer?
ENST00000402438.6:c.366del	ENSP00000385679.1:p.Ser123ValfsTer27
ENST00000407332.6:c.453del	ENSP00000384457.2:p.Ser152ValfsTer27
ENST00000407623.8:c.366del	ENSP00000384834.3:p.Ser123ValfsTer27
ENST00000438270.2:c.366del	ENSP00000403439.2:p.Ser123ValfsTer27
ENST00000684963.1:n.1712del
ENST00000686129.1:c.366del	ENSP00000508623.1:p.Ser123ValfsTer?
ENST00000686523.1:c.*384del	ENSP00000508940.1:n.*384del
ENST00000687183.1:n.496del
ENST00000687198.1:c.366del	ENSP00000508492.1:p.Ser123ValfsTer27
ENST00000688117.1:c.534del	ENSP00000509015.1:p.Ser179ValfsTer27
ENST00000688244.1:c.333+2702del	ENSP00000510355.1:n.333+2702del
ENST00000689001.1:n.842del
ENST00000689195.1:c.435del	ENSP00000509895.1:p.Ser146ValfsTer17
ENST00000689239.1:n.602del
ENST00000689795.1:n.597del
ENST00000690835.1:c.435del	ENSP00000509038.1:p.Ser146ValfsTer27
ENST00000690993.1:n.512del
ENST00000691295.1:c.334-492del	ENSP00000508706.1:n.334-492del
ENST00000691918.1:c.414del	ENSP00000509525.1:p.Ser139ValfsTer27
ENST00000692152.1:c.366del	ENSP00000509317.1:p.Ser123ValfsTer27
ENST00000692344.1:n.459del
ENST00000693157.1:c.355del	ENSP00000510610.1:n.355del
ENST00000693363.1:c.435del	ENSP00000510411.1:p.Ser146ValfsTer27
ENST00000693367.1:c.435del	ENSP00000508815.1:p.Ser146ValfsTer27
ENST00000693639.1:c.428del	ENSP00000510223.1:p.Pro143GlnfsTer17
ENST00000693646.1:c.341del	ENSP00000508449.1:p.Pro114GlnfsTer17
ENST00000352397.10:c.435del MANE Select	ENSP00000338461.6:p.Ser146ValfsTer27
ENST00000352397.9:c.435del	ENSP00000338461.6:p.Ser146ValfsTer27
ENST00000361740.8:c.534del	ENSP00000354468.4:p.Ser179ValfsTer27
ENST00000402438.5:c.366del	ENSP00000385679.1:p.Ser123ValfsTer27
ENST00000407332.5:c.366del	ENSP00000384457.1:p.Ser123ValfsTer27
ENST00000407623.7:c.366del	ENSP00000384834.3:p.Ser123ValfsTer27
ENST00000438270.1:c.366del	ENSP00000403439.1:p.Ser123ValfsTer?
ENST00000470741.1:n.2569del
NM_000398.6:c.435del	NP_000389.1:p.Ser146ValfsTer27
NM_001129819.2:c.366del	NP_001123291.1:p.Ser123ValfsTer27
NM_001171660.1:c.534del	NP_001165131.1:p.Ser179ValfsTer27
NM_001171661.1:c.366del	NP_001165132.1:p.Ser123ValfsTer27
NM_007326.4:c.366del	NP_015565.1:p.Ser123ValfsTer27
NM_000398.7:c.435del MANE Select	NP_000389.1:p.Ser146ValfsTer27
NM_001171660.2:c.534del	NP_001165131.1:p.Ser179ValfsTer27