Canonical Allele Identifier: CA1025970527

Gene: CYB5R3

Linked Data

• ClinVar Variation Id: 1458058
• ClinVar RCV Id: RCV001949405
• dbSNP Id: rs1928115765
• gnomAD v3: 22-42623815-CA-C
• gnomAD v4: 22-42623815-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623816del , CM000684.2:g.42623816del	GRCh38
NC_000022.10:g.43019822del , CM000684.1:g.43019822del	GRCh37
NC_000022.9:g.41349766del	NCBI36
NG_012194.1:g.30584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.838del	ENSP00000354468.5:p.Trp280GlyfsTer18
ENST00000402438.6:c.637del	ENSP00000385679.1:p.Trp213GlyfsTer18
ENST00000407332.6:c.724del	ENSP00000384457.2:p.Trp242GlyfsTer18
ENST00000407623.8:c.637del	ENSP00000384834.3:p.Trp213GlyfsTer18
ENST00000617178.5:c.243del
ENST00000684963.1:n.2446del
ENST00000685184.1:n.298del
ENST00000686523.1:c.*655del	ENSP00000508940.1:n.*655del
ENST00000687183.1:n.982del
ENST00000687198.1:c.637del	ENSP00000508492.1:p.Trp213GlyfsTer18
ENST00000688117.1:c.805del	ENSP00000509015.1:p.Trp269GlyfsTer18
ENST00000688244.1:c.406del	ENSP00000510355.1:p.Trp136GlyfsTer18
ENST00000689001.1:n.1328del
ENST00000689195.1:c.622del	ENSP00000509895.1:p.Trp208GlyfsTer18
ENST00000689239.1:n.873del
ENST00000689795.1:n.967del
ENST00000690835.1:c.*85del	ENSP00000509038.1:n.*85del
ENST00000690993.1:n.1461del
ENST00000691295.1:c.*189del	ENSP00000508706.1:n.*189del
ENST00000691918.1:c.996del	ENSP00000509525.1:n.996del
ENST00000692152.1:c.637del	ENSP00000509317.1:p.Trp213GlyfsTer18
ENST00000692344.1:n.1193del
ENST00000693363.1:c.748del	ENSP00000510411.1:p.Trp250GlyfsTer18
ENST00000693367.1:c.706del	ENSP00000508815.1:p.Trp236GlyfsTer18
ENST00000693639.1:c.699del	ENSP00000510223.1:n.699del
ENST00000693646.1:c.612del	ENSP00000508449.1:n.612del
ENST00000352397.10:c.706del MANE Select	ENSP00000338461.6:p.Trp236GlyfsTer18
ENST00000352397.9:c.706del	ENSP00000338461.6:p.Trp236GlyfsTer18
ENST00000361740.8:c.805del	ENSP00000354468.4:p.Trp269GlyfsTer18
ENST00000402438.5:c.637del	ENSP00000385679.1:p.Trp213GlyfsTer18
ENST00000407332.5:c.637del	ENSP00000384457.1:p.Trp213GlyfsTer18
ENST00000407623.7:c.637del	ENSP00000384834.3:p.Trp213GlyfsTer18
ENST00000470741.1:n.2840del
NM_000398.6:c.706del	NP_000389.1:p.Trp236GlyfsTer18
NM_001129819.2:c.637del	NP_001123291.1:p.Trp213GlyfsTer18
NM_001171660.1:c.805del	NP_001165131.1:p.Trp269GlyfsTer18
NM_001171661.1:c.637del	NP_001165132.1:p.Trp213GlyfsTer18
NM_007326.4:c.637del	NP_015565.1:p.Trp213GlyfsTer18
NM_000398.7:c.706del MANE Select	NP_000389.1:p.Trp236GlyfsTer18
NM_001171660.2:c.805del	NP_001165131.1:p.Trp269GlyfsTer18