Canonical Allele Identifier: CA2590748427

Gene: CYB5R3

Linked Data

• dbSNP Id: rs2146868083
• gnomAD v3: 22-42623809-GTGTACC-G
• gnomAD v4: 22-42623809-GTGTACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623810_42623815del , CM000684.2:g.42623810_42623815del	GRCh38
NC_000022.10:g.43019816_43019821del , CM000684.1:g.43019816_43019821del	GRCh37
NC_000022.9:g.41349760_41349765del	NCBI36
NG_012194.1:g.30585_30590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.839_844del	ENSP00000354468.5:p.Trp280_Thr282delinsSer
ENST00000402438.6:c.638_643del	ENSP00000385679.1:p.Trp213_Thr215delinsSer
ENST00000407332.6:c.725_730del	ENSP00000384457.2:p.Trp242_Thr244delinsSer
ENST00000407623.8:c.638_643del	ENSP00000384834.3:p.Trp213_Thr215delinsSer
ENST00000617178.5:c.244_249del
ENST00000684963.1:n.2447_2452del
ENST00000685184.1:n.299_304del
ENST00000686523.1:c.*656_*661del	ENSP00000508940.1:n.*656_*661del
ENST00000687183.1:n.983_988del
ENST00000687198.1:c.638_643del	ENSP00000508492.1:p.Trp213_Thr215delinsSer
ENST00000688117.1:c.806_811del	ENSP00000509015.1:p.Trp269_Thr271delinsSer
ENST00000688244.1:c.407_412del	ENSP00000510355.1:p.Trp136_Thr138delinsSer
ENST00000689001.1:n.1329_1334del
ENST00000689195.1:c.623_628del	ENSP00000509895.1:p.Trp208_Thr210delinsSer
ENST00000689239.1:n.874_879del
ENST00000689795.1:n.968_973del
ENST00000690835.1:c.*86_*91del	ENSP00000509038.1:n.*86_*91del
ENST00000690993.1:n.1462_1467del
ENST00000691295.1:c.*190_*195del	ENSP00000508706.1:n.*190_*195del
ENST00000691918.1:c.997_1002del	ENSP00000509525.1:n.997_1002del
ENST00000692152.1:c.638_643del	ENSP00000509317.1:p.Trp213_Thr215delinsSer
ENST00000692344.1:n.1194_1199del
ENST00000693363.1:c.749_754del	ENSP00000510411.1:p.Trp250_Thr252delinsSer
ENST00000693367.1:c.707_712del	ENSP00000508815.1:p.Trp236_Thr238delinsSer
ENST00000693639.1:c.700_705del	ENSP00000510223.1:n.700_705del
ENST00000693646.1:c.613_618del	ENSP00000508449.1:n.613_618del
ENST00000352397.10:c.707_712del MANE Select	ENSP00000338461.6:p.Trp236_Thr238delinsSer
ENST00000352397.9:c.707_712del	ENSP00000338461.6:p.Trp236_Thr238delinsSer
ENST00000361740.8:c.806_811del	ENSP00000354468.4:p.Trp269_Thr271delinsSer
ENST00000402438.5:c.638_643del	ENSP00000385679.1:p.Trp213_Thr215delinsSer
ENST00000407332.5:c.638_643del	ENSP00000384457.1:p.Trp213_Thr215delinsSer
ENST00000407623.7:c.638_643del	ENSP00000384834.3:p.Trp213_Thr215delinsSer
ENST00000470741.1:n.2841_2846del
NM_000398.6:c.707_712del	NP_000389.1:p.Trp236_Thr238delinsSer
NM_001129819.2:c.638_643del	NP_001123291.1:p.Trp213_Thr215delinsSer
NM_001171660.1:c.806_811del	NP_001165131.1:p.Trp269_Thr271delinsSer
NM_001171661.1:c.638_643del	NP_001165132.1:p.Trp213_Thr215delinsSer
NM_007326.4:c.638_643del	NP_015565.1:p.Trp213_Thr215delinsSer
NM_000398.7:c.707_712del MANE Select	NP_000389.1:p.Trp236_Thr238delinsSer
NM_001171660.2:c.806_811del	NP_001165131.1:p.Trp269_Thr271delinsSer