Canonical Allele Identifier: CA2819074205
Gene: CYB5R3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42631066_42631067del , CM000684.2:g.42631066_42631067del GRCh38
NC_000022.10:g.43027072_43027073del , CM000684.1:g.43027072_43027073del GRCh37
NC_000022.9:g.41357016_41357017del NCBI36
NG_012194.1:g.23333_23334del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361740.9:c.227-79_227-78del ENSP00000354468.5:n.227-79_227-78del
ENST00000402438.6:c.158-79_158-78del ENSP00000385679.1:n.158-79_158-78del
ENST00000407332.6:c.245-79_245-78del ENSP00000384457.2:n.245-79_245-78del
ENST00000407623.8:c.158-79_158-78del ENSP00000384834.3:n.158-79_158-78del
ENST00000438270.2:c.158-79_158-78del ENSP00000403439.2:n.158-79_158-78del
ENST00000466276.2:n.294-79_294-78del
ENST00000686129.1:c.158-79_158-78del ENSP00000508623.1:n.158-79_158-78del
ENST00000686523.1:c.*176-79_*176-78del ENSP00000508940.1:n.*176-79_*176-78del
ENST00000687183.1:n.288-79_288-78del
ENST00000687198.1:c.158-79_158-78del ENSP00000508492.1:n.158-79_158-78del
ENST00000688117.1:c.326-79_326-78del ENSP00000509015.1:n.326-79_326-78del
ENST00000688244.1:c.227-79_227-78del ENSP00000510355.1:n.227-79_227-78del
ENST00000689001.1:n.555_556del
ENST00000689195.1:c.227-79_227-78del ENSP00000509895.1:n.227-79_227-78del
ENST00000689239.1:n.394-79_394-78del
ENST00000689795.1:n.389-79_389-78del
ENST00000690835.1:c.227-79_227-78del ENSP00000509038.1:n.227-79_227-78del
ENST00000690993.1:n.304-79_304-78del
ENST00000691295.1:c.227-79_227-78del ENSP00000508706.1:n.227-79_227-78del
ENST00000691918.1:c.206-79_206-78del ENSP00000509525.1:n.206-79_206-78del
ENST00000692152.1:c.158-79_158-78del ENSP00000509317.1:n.158-79_158-78del
ENST00000692344.1:n.251-79_251-78del
ENST00000693157.1:c.147-79_147-78del ENSP00000510610.1:n.147-79_147-78del
ENST00000693363.1:c.227-79_227-78del ENSP00000510411.1:n.227-79_227-78del
ENST00000693367.1:c.227-79_227-78del ENSP00000508815.1:n.227-79_227-78del
ENST00000693639.1:c.220-79_220-78del ENSP00000510223.1:n.220-79_220-78del
ENST00000693646.1:c.133-79_133-78del ENSP00000508449.1:n.133-79_133-78del
ENST00000693716.1:n.455-79_455-78del
ENST00000352397.10:c.227-79_227-78del MANE Select ENSP00000338461.6:n.227-79_227-78del
ENST00000352397.9:c.227-79_227-78del ENSP00000338461.6:n.227-79_227-78del
ENST00000361740.8:c.326-79_326-78del ENSP00000354468.4:n.326-79_326-78del
ENST00000402438.5:c.158-79_158-78del ENSP00000385679.1:n.158-79_158-78del
ENST00000407332.5:c.158-79_158-78del ENSP00000384457.1:n.158-79_158-78del
ENST00000407623.7:c.158-79_158-78del ENSP00000384834.3:n.158-79_158-78del
ENST00000438270.1:c.158-79_158-78del ENSP00000403439.1:n.158-79_158-78del
ENST00000466276.1:n.555_556del
ENST00000470741.1:n.2282_2283del
NM_000398.6:c.227-79_227-78del NP_000389.1:n.227-79_227-78del
NM_001129819.2:c.158-79_158-78del NP_001123291.1:n.158-79_158-78del
NM_001171660.1:c.326-79_326-78del NP_001165131.1:n.326-79_326-78del
NM_001171661.1:c.158-79_158-78del NP_001165132.1:n.158-79_158-78del
NM_007326.4:c.158-79_158-78del NP_015565.1:n.158-79_158-78del
NM_000398.7:c.227-79_227-78del MANE Select NP_000389.1:n.227-79_227-78del
NM_001171660.2:c.326-79_326-78del NP_001165131.1:n.326-79_326-78del