Canonical Allele Identifier: CA2657073302

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42630836-GCCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630845_42630848del , CM000684.2:g.42630845_42630848del	GRCh38
NC_000022.10:g.43026851_43026854del , CM000684.1:g.43026851_43026854del	GRCh37
NC_000022.9:g.41356795_41356798del	NCBI36
NG_012194.1:g.23560_23563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.333+42_333+45del	ENSP00000354468.5:n.333+42_333+45del
ENST00000402438.6:c.264+42_264+45del	ENSP00000385679.1:n.264+42_264+45del
ENST00000407332.6:c.351+42_351+45del	ENSP00000384457.2:n.351+42_351+45del
ENST00000407623.8:c.264+42_264+45del	ENSP00000384834.3:n.264+42_264+45del
ENST00000438270.2:c.264+42_264+45del	ENSP00000403439.2:n.264+42_264+45del
ENST00000466276.2:n.442_445del
ENST00000686129.1:c.264+42_264+45del	ENSP00000508623.1:n.264+42_264+45del
ENST00000686523.1:c.*282+42_*282+45del	ENSP00000508940.1:n.*282+42_*282+45del
ENST00000687183.1:n.394+42_394+45del
ENST00000687198.1:c.264+42_264+45del	ENSP00000508492.1:n.264+42_264+45del
ENST00000688117.1:c.432+42_432+45del	ENSP00000509015.1:n.432+42_432+45del
ENST00000688244.1:c.333+42_333+45del	ENSP00000510355.1:n.333+42_333+45del
ENST00000689001.1:n.740+42_740+45del
ENST00000689195.1:c.333+42_333+45del	ENSP00000509895.1:n.333+42_333+45del
ENST00000689239.1:n.500+42_500+45del
ENST00000689795.1:n.495+42_495+45del
ENST00000690835.1:c.333+42_333+45del	ENSP00000509038.1:n.333+42_333+45del
ENST00000690993.1:n.410+42_410+45del
ENST00000691295.1:c.333+42_333+45del	ENSP00000508706.1:n.333+42_333+45del
ENST00000691918.1:c.312+42_312+45del	ENSP00000509525.1:n.312+42_312+45del
ENST00000692152.1:c.264+42_264+45del	ENSP00000509317.1:n.264+42_264+45del
ENST00000692344.1:n.357+42_357+45del
ENST00000693157.1:c.253+42_253+45del	ENSP00000510610.1:n.253+42_253+45del
ENST00000693363.1:c.333+42_333+45del	ENSP00000510411.1:n.333+42_333+45del
ENST00000693367.1:c.333+42_333+45del	ENSP00000508815.1:n.333+42_333+45del
ENST00000693639.1:c.326+42_326+45del	ENSP00000510223.1:n.326+42_326+45del
ENST00000693646.1:c.239+42_239+45del	ENSP00000508449.1:n.239+42_239+45del
ENST00000352397.10:c.333+42_333+45del MANE Select	ENSP00000338461.6:n.333+42_333+45del
ENST00000352397.9:c.333+42_333+45del	ENSP00000338461.6:n.333+42_333+45del
ENST00000361740.8:c.432+42_432+45del	ENSP00000354468.4:n.432+42_432+45del
ENST00000402438.5:c.264+42_264+45del	ENSP00000385679.1:n.264+42_264+45del
ENST00000407332.5:c.264+42_264+45del	ENSP00000384457.1:n.264+42_264+45del
ENST00000407623.7:c.264+42_264+45del	ENSP00000384834.3:n.264+42_264+45del
ENST00000438270.1:c.264+42_264+45del	ENSP00000403439.1:n.264+42_264+45del
ENST00000470741.1:n.2467+42_2467+45del
NM_000398.6:c.333+42_333+45del	NP_000389.1:n.333+42_333+45del
NM_001129819.2:c.264+42_264+45del	NP_001123291.1:n.264+42_264+45del
NM_001171660.1:c.432+42_432+45del	NP_001165131.1:n.432+42_432+45del
NM_001171661.1:c.264+42_264+45del	NP_001165132.1:n.264+42_264+45del
NM_007326.4:c.264+42_264+45del	NP_015565.1:n.264+42_264+45del
NM_000398.7:c.333+42_333+45del MANE Select	NP_000389.1:n.333+42_333+45del
NM_001171660.2:c.432+42_432+45del	NP_001165131.1:n.432+42_432+45del