Canonical Allele Identifier: CA2657073436

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42630882-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630883_42630884dup , CM000684.2:g.42630883_42630884dup	GRCh38
NC_000022.10:g.43026889_43026890dup , CM000684.1:g.43026889_43026890dup	GRCh37
NC_000022.9:g.41356833_41356834dup	NCBI36
NG_012194.1:g.23516_23517dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.331_332dup	ENSP00000354468.5:p.Val112ArgfsTer?
ENST00000402438.6:c.262_263dup	ENSP00000385679.1:p.Val89ArgfsTer?
ENST00000407332.6:c.349_350dup	ENSP00000384457.2:p.Val118ArgfsTer?
ENST00000407623.8:c.262_263dup	ENSP00000384834.3:p.Val89ArgfsTer?
ENST00000438270.2:c.262_263dup	ENSP00000403439.2:p.Val89ArgfsTer?
ENST00000466276.2:n.398_399dup
ENST00000686129.1:c.262_263dup	ENSP00000508623.1:p.Val89ArgfsTer?
ENST00000686523.1:c.*280_*281dup	ENSP00000508940.1:n.*280_*281dup
ENST00000687183.1:n.392_393dup
ENST00000687198.1:c.262_263dup	ENSP00000508492.1:p.Val89ArgfsTer?
ENST00000688117.1:c.430_431dup	ENSP00000509015.1:p.Val145ArgfsTer?
ENST00000688244.1:c.331_332dup	ENSP00000510355.1:p.Thr112ArgfsTer?
ENST00000689001.1:n.738_739dup
ENST00000689195.1:c.331_332dup	ENSP00000509895.1:p.Val112ArgfsTer?
ENST00000689239.1:n.498_499dup
ENST00000689795.1:n.493_494dup
ENST00000690835.1:c.331_332dup	ENSP00000509038.1:p.Val112ArgfsTer?
ENST00000690993.1:n.408_409dup
ENST00000691295.1:c.331_332dup	ENSP00000508706.1:p.Gly112ArgfsTer8
ENST00000691918.1:c.310_311dup	ENSP00000509525.1:p.Val105ArgfsTer?
ENST00000692152.1:c.262_263dup	ENSP00000509317.1:p.Val89ArgfsTer?
ENST00000692344.1:n.355_356dup
ENST00000693157.1:c.251_252dup	ENSP00000510610.1:n.251_252dup
ENST00000693363.1:c.331_332dup	ENSP00000510411.1:p.Val112ArgfsTer?
ENST00000693367.1:c.331_332dup	ENSP00000508815.1:p.Val112ArgfsTer?
ENST00000693639.1:c.324_325dup	ENSP00000510223.1:p.Arg109LysfsTer31
ENST00000693646.1:c.237_238dup	ENSP00000508449.1:p.Arg80LysfsTer31
ENST00000352397.10:c.331_332dup MANE Select	ENSP00000338461.6:p.Val112ArgfsTer?
ENST00000352397.9:c.331_332dup	ENSP00000338461.6:p.Val112ArgfsTer?
ENST00000361740.8:c.430_431dup	ENSP00000354468.4:p.Val145ArgfsTer?
ENST00000402438.5:c.262_263dup	ENSP00000385679.1:p.Val89ArgfsTer?
ENST00000407332.5:c.262_263dup	ENSP00000384457.1:p.Val89ArgfsTer?
ENST00000407623.7:c.262_263dup	ENSP00000384834.3:p.Val89ArgfsTer?
ENST00000438270.1:c.262_263dup	ENSP00000403439.1:p.Val89ArgfsTer?
ENST00000470741.1:n.2465_2466dup
NM_000398.6:c.331_332dup	NP_000389.1:p.Val112ArgfsTer?
NM_001129819.2:c.262_263dup	NP_001123291.1:p.Val89ArgfsTer?
NM_001171660.1:c.430_431dup	NP_001165131.1:p.Val145ArgfsTer?
NM_001171661.1:c.262_263dup	NP_001165132.1:p.Val89ArgfsTer?
NM_007326.4:c.262_263dup	NP_015565.1:p.Val89ArgfsTer?
NM_000398.7:c.331_332dup MANE Select	NP_000389.1:p.Val112ArgfsTer?
NM_001171660.2:c.430_431dup	NP_001165131.1:p.Val145ArgfsTer?