Canonical Allele Identifier: CA2657074098

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42631189-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42631190_42631191del , CM000684.2:g.42631190_42631191del	GRCh38
NC_000022.10:g.43027196_43027197del , CM000684.1:g.43027196_43027197del	GRCh37
NC_000022.9:g.41357140_41357141del	NCBI36
NG_012194.1:g.23209_23210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.226+187_226+188del	ENSP00000354468.5:n.226+187_226+188del
ENST00000402438.6:c.157+187_157+188del	ENSP00000385679.1:n.157+187_157+188del
ENST00000407332.6:c.244+187_244+188del	ENSP00000384457.2:n.244+187_244+188del
ENST00000407623.8:c.157+187_157+188del	ENSP00000384834.3:n.157+187_157+188del
ENST00000438270.2:c.157+187_157+188del	ENSP00000403439.2:n.157+187_157+188del
ENST00000466276.2:n.293+187_293+188del
ENST00000686129.1:c.157+187_157+188del	ENSP00000508623.1:n.157+187_157+188del
ENST00000686523.1:c.*175+187_*175+188del	ENSP00000508940.1:n.*175+187_*175+188del
ENST00000687183.1:n.287+187_287+188del
ENST00000687198.1:c.157+187_157+188del	ENSP00000508492.1:n.157+187_157+188del
ENST00000688117.1:c.325+187_325+188del	ENSP00000509015.1:n.325+187_325+188del
ENST00000688244.1:c.226+187_226+188del	ENSP00000510355.1:n.226+187_226+188del
ENST00000689001.1:n.431_432del
ENST00000689195.1:c.226+187_226+188del	ENSP00000509895.1:n.226+187_226+188del
ENST00000689239.1:n.393+187_393+188del
ENST00000689795.1:n.388+187_388+188del
ENST00000690835.1:c.226+187_226+188del	ENSP00000509038.1:n.226+187_226+188del
ENST00000690993.1:n.303+187_303+188del
ENST00000691295.1:c.226+187_226+188del	ENSP00000508706.1:n.226+187_226+188del
ENST00000691918.1:c.205+187_205+188del	ENSP00000509525.1:n.205+187_205+188del
ENST00000692152.1:c.157+187_157+188del	ENSP00000509317.1:n.157+187_157+188del
ENST00000692344.1:n.250+187_250+188del
ENST00000693157.1:c.147-203_147-202del	ENSP00000510610.1:n.147-203_147-202del
ENST00000693363.1:c.226+187_226+188del	ENSP00000510411.1:n.226+187_226+188del
ENST00000693367.1:c.226+187_226+188del	ENSP00000508815.1:n.226+187_226+188del
ENST00000693639.1:c.219+187_219+188del	ENSP00000510223.1:n.219+187_219+188del
ENST00000693646.1:c.133-203_133-202del	ENSP00000508449.1:n.133-203_133-202del
ENST00000693716.1:n.454+187_454+188del
ENST00000352397.10:c.226+187_226+188del MANE Select	ENSP00000338461.6:n.226+187_226+188del
ENST00000352397.9:c.226+187_226+188del	ENSP00000338461.6:n.226+187_226+188del
ENST00000361740.8:c.325+187_325+188del	ENSP00000354468.4:n.325+187_325+188del
ENST00000402438.5:c.157+187_157+188del	ENSP00000385679.1:n.157+187_157+188del
ENST00000407332.5:c.157+187_157+188del	ENSP00000384457.1:n.157+187_157+188del
ENST00000407623.7:c.157+187_157+188del	ENSP00000384834.3:n.157+187_157+188del
ENST00000438270.1:c.157+187_157+188del	ENSP00000403439.1:n.157+187_157+188del
ENST00000466276.1:n.431_432del
ENST00000470741.1:n.2158_2159del
NM_000398.6:c.226+187_226+188del	NP_000389.1:n.226+187_226+188del
NM_001129819.2:c.157+187_157+188del	NP_001123291.1:n.157+187_157+188del
NM_001171660.1:c.325+187_325+188del	NP_001165131.1:n.325+187_325+188del
NM_001171661.1:c.157+187_157+188del	NP_001165132.1:n.157+187_157+188del
NM_007326.4:c.157+187_157+188del	NP_015565.1:n.157+187_157+188del
NM_000398.7:c.226+187_226+188del MANE Select	NP_000389.1:n.226+187_226+188del
NM_001171660.2:c.325+187_325+188del	NP_001165131.1:n.325+187_325+188del