Canonical Allele Identifier: CA2657071426

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42628058-ACAGAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628062_42628067del , CM000684.2:g.42628062_42628067del	GRCh38
NC_000022.10:g.43024068_43024073del , CM000684.1:g.43024068_43024073del	GRCh37
NC_000022.9:g.41354012_41354017del	NCBI36
NG_012194.1:g.26336_26341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.463+88_463+93del	ENSP00000354468.5:n.463+88_463+93del
ENST00000402438.6:c.394+88_394+93del	ENSP00000385679.1:n.394+88_394+93del
ENST00000407332.6:c.481+88_481+93del	ENSP00000384457.2:n.481+88_481+93del
ENST00000407623.8:c.394+88_394+93del	ENSP00000384834.3:n.394+88_394+93del
ENST00000438270.2:c.394+88_394+93del	ENSP00000403439.2:n.394+88_394+93del
ENST00000684963.1:n.1828_1833del
ENST00000686523.1:c.*412+88_*412+93del	ENSP00000508940.1:n.*412+88_*412+93del
ENST00000687183.1:n.524+88_524+93del
ENST00000687198.1:c.394+88_394+93del	ENSP00000508492.1:n.394+88_394+93del
ENST00000688117.1:c.562+88_562+93del	ENSP00000509015.1:n.562+88_562+93del
ENST00000688244.1:c.333+2818_333+2823del	ENSP00000510355.1:n.333+2818_333+2823del
ENST00000689001.1:n.870+88_870+93del
ENST00000689195.1:c.463+88_463+93del	ENSP00000509895.1:n.463+88_463+93del
ENST00000689239.1:n.630+88_630+93del
ENST00000689795.1:n.625+88_625+93del
ENST00000690835.1:c.463+88_463+93del	ENSP00000509038.1:n.463+88_463+93del
ENST00000690993.1:n.628_633del
ENST00000691295.1:c.334-376_334-371del	ENSP00000508706.1:n.334-376_334-371del
ENST00000691918.1:c.442+88_442+93del	ENSP00000509525.1:n.442+88_442+93del
ENST00000692152.1:c.394+88_394+93del	ENSP00000509317.1:n.394+88_394+93del
ENST00000692344.1:n.575_580del
ENST00000693363.1:c.463+88_463+93del	ENSP00000510411.1:n.463+88_463+93del
ENST00000693367.1:c.463+88_463+93del	ENSP00000508815.1:n.463+88_463+93del
ENST00000693639.1:c.456+88_456+93del	ENSP00000510223.1:n.456+88_456+93del
ENST00000693646.1:c.369+88_369+93del	ENSP00000508449.1:n.369+88_369+93del
ENST00000352397.10:c.463+88_463+93del MANE Select	ENSP00000338461.6:n.463+88_463+93del
ENST00000352397.9:c.463+88_463+93del	ENSP00000338461.6:n.463+88_463+93del
ENST00000361740.8:c.562+88_562+93del	ENSP00000354468.4:n.562+88_562+93del
ENST00000402438.5:c.394+88_394+93del	ENSP00000385679.1:n.394+88_394+93del
ENST00000407332.5:c.394+88_394+93del	ENSP00000384457.1:n.394+88_394+93del
ENST00000407623.7:c.394+88_394+93del	ENSP00000384834.3:n.394+88_394+93del
ENST00000438270.1:c.394+88_394+93del	ENSP00000403439.1:n.394+88_394+93del
ENST00000470741.1:n.2597+88_2597+93del
NM_000398.6:c.463+88_463+93del	NP_000389.1:n.463+88_463+93del
NM_001129819.2:c.394+88_394+93del	NP_001123291.1:n.394+88_394+93del
NM_001171660.1:c.562+88_562+93del	NP_001165131.1:n.562+88_562+93del
NM_001171661.1:c.394+88_394+93del	NP_001165132.1:n.394+88_394+93del
NM_007326.4:c.394+88_394+93del	NP_015565.1:n.394+88_394+93del
NM_000398.7:c.463+88_463+93del MANE Select	NP_000389.1:n.463+88_463+93del
NM_001171660.2:c.562+88_562+93del	NP_001165131.1:n.562+88_562+93del