Canonical Allele Identifier: CA753375099

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1327443619
• MyVariant Identifiers: chr22:g.43023248_43023253del (hg19) ; chr22:g.42627242_42627247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627244_42627249del , CM000684.2:g.42627244_42627249del	GRCh38
NC_000022.10:g.43023250_43023255del , CM000684.1:g.43023250_43023255del	GRCh37
NC_000022.9:g.41353194_41353199del	NCBI36
NG_012194.1:g.27153_27158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.765+57_765+62del	ENSP00000354468.5:n.765+57_765+62del
ENST00000402438.6:c.564+57_564+62del	ENSP00000385679.1:n.564+57_564+62del
ENST00000407332.6:c.651+57_651+62del	ENSP00000384457.2:n.651+57_651+62del
ENST00000407623.8:c.564+57_564+62del	ENSP00000384834.3:n.564+57_564+62del
ENST00000617178.5:c.170+57_170+62del
ENST00000684963.1:n.2373+57_2373+62del
ENST00000686523.1:c.*582+57_*582+62del	ENSP00000508940.1:n.*582+57_*582+62del
ENST00000687183.1:n.909+57_909+62del
ENST00000687198.1:c.564+57_564+62del	ENSP00000508492.1:n.564+57_564+62del
ENST00000688117.1:c.732+57_732+62del	ENSP00000509015.1:n.732+57_732+62del
ENST00000688244.1:c.334-3359_334-3354del	ENSP00000510355.1:n.334-3359_334-3354del
ENST00000689001.1:n.1255+57_1255+62del
ENST00000689195.1:c.549+57_549+62del	ENSP00000509895.1:n.549+57_549+62del
ENST00000689239.1:n.800+57_800+62del
ENST00000689795.1:n.795+57_795+62del
ENST00000690835.1:c.633+57_633+62del	ENSP00000509038.1:n.633+57_633+62del
ENST00000690993.1:n.1388+57_1388+62del
ENST00000691295.1:c.*116+57_*116+62del	ENSP00000508706.1:n.*116+57_*116+62del
ENST00000691918.1:c.612+57_612+62del	ENSP00000509525.1:n.612+57_612+62del
ENST00000692152.1:c.564+57_564+62del	ENSP00000509317.1:n.564+57_564+62del
ENST00000692344.1:n.1120+57_1120+62del
ENST00000693363.1:c.675+57_675+62del	ENSP00000510411.1:n.675+57_675+62del
ENST00000693367.1:c.633+57_633+62del	ENSP00000508815.1:n.633+57_633+62del
ENST00000693639.1:c.626+57_626+62del	ENSP00000510223.1:n.626+57_626+62del
ENST00000693646.1:c.539+57_539+62del	ENSP00000508449.1:n.539+57_539+62del
ENST00000352397.10:c.633+57_633+62del MANE Select	ENSP00000338461.6:n.633+57_633+62del
ENST00000352397.9:c.633+57_633+62del	ENSP00000338461.6:n.633+57_633+62del
ENST00000361740.8:c.732+57_732+62del	ENSP00000354468.4:n.732+57_732+62del
ENST00000402438.5:c.564+57_564+62del	ENSP00000385679.1:n.564+57_564+62del
ENST00000407332.5:c.564+57_564+62del	ENSP00000384457.1:n.564+57_564+62del
ENST00000407623.7:c.564+57_564+62del	ENSP00000384834.3:n.564+57_564+62del
ENST00000470741.1:n.2767+57_2767+62del
NM_000398.6:c.633+57_633+62del	NP_000389.1:n.633+57_633+62del
NM_001129819.2:c.564+57_564+62del	NP_001123291.1:n.564+57_564+62del
NM_001171660.1:c.732+57_732+62del	NP_001165131.1:n.732+57_732+62del
NM_001171661.1:c.564+57_564+62del	NP_001165132.1:n.564+57_564+62del
NM_007326.4:c.564+57_564+62del	NP_015565.1:n.564+57_564+62del
NM_000398.7:c.633+57_633+62del MANE Select	NP_000389.1:n.633+57_633+62del
NM_001171660.2:c.732+57_732+62del	NP_001165131.1:n.732+57_732+62del