Canonical Allele Identifier: CA2657073968

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42631111-C-CAGGAGTGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42631111_42631112insAGGAGTGAA , CM000684.2:g.42631111_42631112insAGGAGTGAA	GRCh38
NC_000022.10:g.43027117_43027118insAGGAGTGAA , CM000684.1:g.43027117_43027118insAGGAGTGAA	GRCh37
NC_000022.9:g.41357061_41357062insAGGAGTGAA	NCBI36
NG_012194.1:g.23288_23289insTTCACTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.227-124_227-123insTTCACTCCT	ENSP00000354468.5:n.227-124_227-123insTTCACTCCT
ENST00000402438.6:c.158-124_158-123insTTCACTCCT	ENSP00000385679.1:n.158-124_158-123insTTCACTCCT
ENST00000407332.6:c.245-124_245-123insTTCACTCCT	ENSP00000384457.2:n.245-124_245-123insTTCACTCCT
ENST00000407623.8:c.158-124_158-123insTTCACTCCT	ENSP00000384834.3:n.158-124_158-123insTTCACTCCT
ENST00000438270.2:c.158-124_158-123insTTCACTCCT	ENSP00000403439.2:n.158-124_158-123insTTCACTCCT
ENST00000466276.2:n.294-124_294-123insTTCACTCCT
ENST00000686129.1:c.158-124_158-123insTTCACTCCT	ENSP00000508623.1:n.158-124_158-123insTTCACTCCT
ENST00000686523.1:c.*176-124_*176-123insTTCACTCCT	ENSP00000508940.1:n.*176-124_*176-123insTTCACTCCT
ENST00000687183.1:n.288-124_288-123insTTCACTCCT
ENST00000687198.1:c.158-124_158-123insTTCACTCCT	ENSP00000508492.1:n.158-124_158-123insTTCACTCCT
ENST00000688117.1:c.326-124_326-123insTTCACTCCT	ENSP00000509015.1:n.326-124_326-123insTTCACTCCT
ENST00000688244.1:c.227-124_227-123insTTCACTCCT	ENSP00000510355.1:n.227-124_227-123insTTCACTCCT
ENST00000689001.1:n.510_511insTTCACTCCT
ENST00000689195.1:c.227-124_227-123insTTCACTCCT	ENSP00000509895.1:n.227-124_227-123insTTCACTCCT
ENST00000689239.1:n.394-124_394-123insTTCACTCCT
ENST00000689795.1:n.389-124_389-123insTTCACTCCT
ENST00000690835.1:c.227-124_227-123insTTCACTCCT	ENSP00000509038.1:n.227-124_227-123insTTCACTCCT
ENST00000690993.1:n.304-124_304-123insTTCACTCCT
ENST00000691295.1:c.227-124_227-123insTTCACTCCT	ENSP00000508706.1:n.227-124_227-123insTTCACTCCT
ENST00000691918.1:c.206-124_206-123insTTCACTCCT	ENSP00000509525.1:n.206-124_206-123insTTCACTCCT
ENST00000692152.1:c.158-124_158-123insTTCACTCCT	ENSP00000509317.1:n.158-124_158-123insTTCACTCCT
ENST00000692344.1:n.251-124_251-123insTTCACTCCT
ENST00000693157.1:c.147-124_147-123insTTCACTCCT	ENSP00000510610.1:n.147-124_147-123insTTCACTCCT
ENST00000693363.1:c.227-124_227-123insTTCACTCCT	ENSP00000510411.1:n.227-124_227-123insTTCACTCCT
ENST00000693367.1:c.227-124_227-123insTTCACTCCT	ENSP00000508815.1:n.227-124_227-123insTTCACTCCT
ENST00000693639.1:c.220-124_220-123insTTCACTCCT	ENSP00000510223.1:n.220-124_220-123insTTCACTCCT
ENST00000693646.1:c.133-124_133-123insTTCACTCCT	ENSP00000508449.1:n.133-124_133-123insTTCACTCCT
ENST00000693716.1:n.455-124_455-123insTTCACTCCT
ENST00000352397.10:c.227-124_227-123insTTCACTCCT MANE Select	ENSP00000338461.6:n.227-124_227-123insTTCACTCCT
ENST00000352397.9:c.227-124_227-123insTTCACTCCT	ENSP00000338461.6:n.227-124_227-123insTTCACTCCT
ENST00000361740.8:c.326-124_326-123insTTCACTCCT	ENSP00000354468.4:n.326-124_326-123insTTCACTCCT
ENST00000402438.5:c.158-124_158-123insTTCACTCCT	ENSP00000385679.1:n.158-124_158-123insTTCACTCCT
ENST00000407332.5:c.158-124_158-123insTTCACTCCT	ENSP00000384457.1:n.158-124_158-123insTTCACTCCT
ENST00000407623.7:c.158-124_158-123insTTCACTCCT	ENSP00000384834.3:n.158-124_158-123insTTCACTCCT
ENST00000438270.1:c.158-124_158-123insTTCACTCCT	ENSP00000403439.1:n.158-124_158-123insTTCACTCCT
ENST00000466276.1:n.510_511insTTCACTCCT
ENST00000470741.1:n.2237_2238insTTCACTCCT
NM_000398.6:c.227-124_227-123insTTCACTCCT	NP_000389.1:n.227-124_227-123insTTCACTCCT
NM_001129819.2:c.158-124_158-123insTTCACTCCT	NP_001123291.1:n.158-124_158-123insTTCACTCCT
NM_001171660.1:c.326-124_326-123insTTCACTCCT	NP_001165131.1:n.326-124_326-123insTTCACTCCT
NM_001171661.1:c.158-124_158-123insTTCACTCCT	NP_001165132.1:n.158-124_158-123insTTCACTCCT
NM_007326.4:c.158-124_158-123insTTCACTCCT	NP_015565.1:n.158-124_158-123insTTCACTCCT
NM_000398.7:c.227-124_227-123insTTCACTCCT MANE Select	NP_000389.1:n.227-124_227-123insTTCACTCCT
NM_001171660.2:c.326-124_326-123insTTCACTCCT	NP_001165131.1:n.326-124_326-123insTTCACTCCT