Canonical Allele Identifier: CA2657072176

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42628265-G-GTAACTTGGGATGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628266_42628267insAACTTGGGATGGCT , CM000684.2:g.42628266_42628267insAACTTGGGATGGCT	GRCh38
NC_000022.10:g.43024272_43024273insAACTTGGGATGGCT , CM000684.1:g.43024272_43024273insAACTTGGGATGGCT	GRCh37
NC_000022.9:g.41354216_41354217insAACTTGGGATGGCT	NCBI36
NG_012194.1:g.26134_26135insGCCATCCCAAGTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.349_350insGCCATCCCAAGTTA	ENSP00000354468.5:p.Thr117SerfsTer?
ENST00000402438.6:c.280_281insGCCATCCCAAGTTA	ENSP00000385679.1:p.Thr94SerfsTer?
ENST00000407332.6:c.367_368insGCCATCCCAAGTTA	ENSP00000384457.2:p.Thr123SerfsTer?
ENST00000407623.8:c.280_281insGCCATCCCAAGTTA	ENSP00000384834.3:p.Thr94SerfsTer?
ENST00000438270.2:c.280_281insGCCATCCCAAGTTA	ENSP00000403439.2:p.Thr94SerfsTer?
ENST00000684963.1:n.1626_1627insGCCATCCCAAGTTA
ENST00000686129.1:c.280_281insGCCATCCCAAGTTA	ENSP00000508623.1:p.Thr94SerfsTer?
ENST00000686523.1:c.*298_*299insGCCATCCCAAGTTA	ENSP00000508940.1:n.*298_*299insGCCATCCCAAGTTA
ENST00000687183.1:n.410_411insGCCATCCCAAGTTA
ENST00000687198.1:c.280_281insGCCATCCCAAGTTA	ENSP00000508492.1:p.Thr94SerfsTer?
ENST00000688117.1:c.448_449insGCCATCCCAAGTTA	ENSP00000509015.1:p.Thr150SerfsTer?
ENST00000688244.1:c.333+2616_333+2617insGCCATCCCAAGTTA	ENSP00000510355.1:n.333+2616_333+2617insGCCATCCCAAGTTA
ENST00000689001.1:n.756_757insGCCATCCCAAGTTA
ENST00000689195.1:c.349_350insGCCATCCCAAGTTA	ENSP00000509895.1:p.Thr117SerfsTer?
ENST00000689239.1:n.516_517insGCCATCCCAAGTTA
ENST00000689795.1:n.511_512insGCCATCCCAAGTTA
ENST00000690835.1:c.349_350insGCCATCCCAAGTTA	ENSP00000509038.1:p.Thr117SerfsTer?
ENST00000690993.1:n.426_427insGCCATCCCAAGTTA
ENST00000691295.1:c.334-578_334-577insGCCATCCCAAGTTA	ENSP00000508706.1:n.334-578_334-577insGCCATCCCAAGTTA
ENST00000691918.1:c.328_329insGCCATCCCAAGTTA	ENSP00000509525.1:p.Thr110SerfsTer?
ENST00000692152.1:c.280_281insGCCATCCCAAGTTA	ENSP00000509317.1:p.Thr94SerfsTer?
ENST00000692344.1:n.373_374insGCCATCCCAAGTTA
ENST00000693157.1:c.269_270insGCCATCCCAAGTTA	ENSP00000510610.1:n.269_270insGCCATCCCAAGTTA
ENST00000693363.1:c.349_350insGCCATCCCAAGTTA	ENSP00000510411.1:p.Thr117SerfsTer?
ENST00000693367.1:c.349_350insGCCATCCCAAGTTA	ENSP00000508815.1:p.Thr117SerfsTer?
ENST00000693639.1:c.342_343insGCCATCCCAAGTTA	ENSP00000510223.1:p.Pro115AlafsTer29
ENST00000693646.1:c.255_256insGCCATCCCAAGTTA	ENSP00000508449.1:p.Pro86AlafsTer29
ENST00000352397.10:c.349_350insGCCATCCCAAGTTA MANE Select	ENSP00000338461.6:p.Thr117SerfsTer?
ENST00000352397.9:c.349_350insGCCATCCCAAGTTA	ENSP00000338461.6:p.Thr117SerfsTer?
ENST00000361740.8:c.448_449insGCCATCCCAAGTTA	ENSP00000354468.4:p.Thr150SerfsTer?
ENST00000402438.5:c.280_281insGCCATCCCAAGTTA	ENSP00000385679.1:p.Thr94SerfsTer?
ENST00000407332.5:c.280_281insGCCATCCCAAGTTA	ENSP00000384457.1:p.Thr94SerfsTer?
ENST00000407623.7:c.280_281insGCCATCCCAAGTTA	ENSP00000384834.3:p.Thr94SerfsTer?
ENST00000438270.1:c.280_281insGCCATCCCAAGTTA	ENSP00000403439.1:p.Thr94SerfsTer?
ENST00000470741.1:n.2483_2484insGCCATCCCAAGTTA
NM_000398.6:c.349_350insGCCATCCCAAGTTA	NP_000389.1:p.Thr117SerfsTer?
NM_001129819.2:c.280_281insGCCATCCCAAGTTA	NP_001123291.1:p.Thr94SerfsTer?
NM_001171660.1:c.448_449insGCCATCCCAAGTTA	NP_001165131.1:p.Thr150SerfsTer?
NM_001171661.1:c.280_281insGCCATCCCAAGTTA	NP_001165132.1:p.Thr94SerfsTer?
NM_007326.4:c.280_281insGCCATCCCAAGTTA	NP_015565.1:p.Thr94SerfsTer?
NM_000398.7:c.349_350insGCCATCCCAAGTTA MANE Select	NP_000389.1:p.Thr117SerfsTer?
NM_001171660.2:c.448_449insGCCATCCCAAGTTA	NP_001165131.1:p.Thr150SerfsTer?