Canonical Allele Identifier: CA2406835179
Gene: CYB5R3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42623815_42623816delinsCA , CM000684.2:g.42623815_42623816delinsCA GRCh38
NC_000022.10:g.43019821_43019822delinsCA , CM000684.1:g.43019821_43019822delinsCA GRCh37
NC_000022.9:g.41349765_41349766delinsCA NCBI36
NG_012194.1:g.30584_30585delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361740.9:c.838_839delinsTG ENSP00000354468.5:p.Trp280=
ENST00000402438.6:c.637_638delinsTG ENSP00000385679.1:p.Trp213=
ENST00000407332.6:c.724_725delinsTG ENSP00000384457.2:p.Trp242=
ENST00000407623.8:c.637_638delinsTG ENSP00000384834.3:p.Trp213=
ENST00000617178.5:c.243_244delinsTG
ENST00000684963.1:n.2446_2447delinsTG
ENST00000685184.1:n.298_299delinsTG
ENST00000686523.1:c.*655_*656delinsTG ENSP00000508940.1:n.*655_*656delinsTG
ENST00000687183.1:n.982_983delinsTG
ENST00000687198.1:c.637_638delinsTG ENSP00000508492.1:p.Trp213=
ENST00000688117.1:c.805_806delinsTG ENSP00000509015.1:p.Trp269=
ENST00000688244.1:c.406_407delinsTG ENSP00000510355.1:p.Trp136=
ENST00000689001.1:n.1328_1329delinsTG
ENST00000689195.1:c.622_623delinsTG ENSP00000509895.1:p.Trp208=
ENST00000689239.1:n.873_874delinsTG
ENST00000689795.1:n.967_968delinsTG
ENST00000690835.1:c.*85_*86delinsTG ENSP00000509038.1:n.*85_*86delinsTG
ENST00000690993.1:n.1461_1462delinsTG
ENST00000691295.1:c.*189_*190delinsTG ENSP00000508706.1:n.*189_*190delinsTG
ENST00000691918.1:c.996_997delinsTG ENSP00000509525.1:n.996_997delinsTG
ENST00000692152.1:c.637_638delinsTG ENSP00000509317.1:p.Trp213=
ENST00000692344.1:n.1193_1194delinsTG
ENST00000693363.1:c.748_749delinsTG ENSP00000510411.1:p.Trp250=
ENST00000693367.1:c.706_707delinsTG ENSP00000508815.1:p.Trp236=
ENST00000693639.1:c.699_700delinsTG ENSP00000510223.1:n.699_700delinsTG
ENST00000693646.1:c.612_613delinsTG ENSP00000508449.1:n.612_613delinsTG
ENST00000352397.10:c.706_707delinsTG MANE Select ENSP00000338461.6:p.Trp236=
ENST00000352397.9:c.706_707delinsTG ENSP00000338461.6:p.Trp236=
ENST00000361740.8:c.805_806delinsTG ENSP00000354468.4:p.Trp269=
ENST00000402438.5:c.637_638delinsTG ENSP00000385679.1:p.Trp213=
ENST00000407332.5:c.637_638delinsTG ENSP00000384457.1:p.Trp213=
ENST00000407623.7:c.637_638delinsTG ENSP00000384834.3:p.Trp213=
ENST00000470741.1:n.2840_2841delinsTG
NM_000398.6:c.706_707delinsTG NP_000389.1:p.Trp236=
NM_001129819.2:c.637_638delinsTG NP_001123291.1:p.Trp213=
NM_001171660.1:c.805_806delinsTG NP_001165131.1:p.Trp269=
NM_001171661.1:c.637_638delinsTG NP_001165132.1:p.Trp213=
NM_007326.4:c.637_638delinsTG NP_015565.1:p.Trp213=
NM_000398.7:c.706_707delinsTG MANE Select NP_000389.1:p.Trp236=
NM_001171660.2:c.805_806delinsTG NP_001165131.1:p.Trp269=