Canonical Allele Identifier: CA2590748428

Gene: CYB5R3

Linked Data

• gnomAD v3: 22-42623817-GAGCTTGAAGCGTGCA-G
• gnomAD v4: 22-42623817-GAGCTTGAAGCGTGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623818_42623832del , CM000684.2:g.42623818_42623832del	GRCh38
NC_000022.10:g.43019824_43019838del , CM000684.1:g.43019824_43019838del	GRCh37
NC_000022.9:g.41349768_41349782del	NCBI36
NG_012194.1:g.30568_30582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.822_836del	ENSP00000354468.5:p.Ala275_Leu279del
ENST00000402438.6:c.621_635del	ENSP00000385679.1:p.Ala208_Leu212del
ENST00000407332.6:c.708_722del	ENSP00000384457.2:p.Ala237_Leu241del
ENST00000407623.8:c.621_635del	ENSP00000384834.3:p.Ala208_Leu212del
ENST00000617178.5:c.227_241del
ENST00000684963.1:n.2430_2444del
ENST00000685184.1:n.282_296del
ENST00000686523.1:c.*639_*653del	ENSP00000508940.1:n.*639_*653del
ENST00000687183.1:n.966_980del
ENST00000687198.1:c.621_635del	ENSP00000508492.1:p.Ala208_Leu212del
ENST00000688117.1:c.789_803del	ENSP00000509015.1:p.Ala264_Leu268del
ENST00000688244.1:c.390_404del	ENSP00000510355.1:p.Ala131_Leu135del
ENST00000689001.1:n.1312_1326del
ENST00000689195.1:c.606_620del	ENSP00000509895.1:p.Ala203_Leu207del
ENST00000689239.1:n.857_871del
ENST00000689795.1:n.951_965del
ENST00000690835.1:c.*69_*83del	ENSP00000509038.1:n.*69_*83del
ENST00000690993.1:n.1445_1459del
ENST00000691295.1:c.*173_*187del	ENSP00000508706.1:n.*173_*187del
ENST00000691918.1:c.980_994del	ENSP00000509525.1:n.980_994del
ENST00000692152.1:c.621_635del	ENSP00000509317.1:p.Ala208_Leu212del
ENST00000692344.1:n.1177_1191del
ENST00000693363.1:c.732_746del	ENSP00000510411.1:p.Ala245_Leu249del
ENST00000693367.1:c.690_704del	ENSP00000508815.1:p.Ala231_Leu235del
ENST00000693639.1:c.683_697del	ENSP00000510223.1:n.683_697del
ENST00000693646.1:c.596_610del	ENSP00000508449.1:n.596_610del
ENST00000352397.10:c.690_704del MANE Select	ENSP00000338461.6:p.Ala231_Leu235del
ENST00000352397.9:c.690_704del	ENSP00000338461.6:p.Ala231_Leu235del
ENST00000361740.8:c.789_803del	ENSP00000354468.4:p.Ala264_Leu268del
ENST00000402438.5:c.621_635del	ENSP00000385679.1:p.Ala208_Leu212del
ENST00000407332.5:c.621_635del	ENSP00000384457.1:p.Ala208_Leu212del
ENST00000407623.7:c.621_635del	ENSP00000384834.3:p.Ala208_Leu212del
ENST00000470741.1:n.2824_2838del
NM_000398.6:c.690_704del	NP_000389.1:p.Ala231_Leu235del
NM_001129819.2:c.621_635del	NP_001123291.1:p.Ala208_Leu212del
NM_001171660.1:c.789_803del	NP_001165131.1:p.Ala264_Leu268del
NM_001171661.1:c.621_635del	NP_001165132.1:p.Ala208_Leu212del
NM_007326.4:c.621_635del	NP_015565.1:p.Ala208_Leu212del
NM_000398.7:c.690_704del MANE Select	NP_000389.1:p.Ala231_Leu235del
NM_001171660.2:c.789_803del	NP_001165131.1:p.Ala264_Leu268del