Canonical Allele Identifier: CA2987814980

Gene: CYB5R3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623882_42623884del , CM000684.2:g.42623882_42623884del	GRCh38
NC_000022.10:g.43019888_43019890del , CM000684.1:g.43019888_43019890del	GRCh37
NC_000022.9:g.41349832_41349834del	NCBI36
NG_012194.1:g.30518_30520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.772_774del	ENSP00000354468.5:p.Lys258del
ENST00000402438.6:c.571_573del	ENSP00000385679.1:p.Lys191del
ENST00000407332.6:c.658_660del	ENSP00000384457.2:p.Lys220del
ENST00000407623.8:c.571_573del	ENSP00000384834.3:p.Lys191del
ENST00000617178.5:c.177_179del
ENST00000684963.1:n.2380_2382del
ENST00000685184.1:n.232_234del
ENST00000686523.1:c.*589_*591del	ENSP00000508940.1:n.*589_*591del
ENST00000687183.1:n.916_918del
ENST00000687198.1:c.571_573del	ENSP00000508492.1:p.Lys191del
ENST00000688117.1:c.739_741del	ENSP00000509015.1:p.Lys247del
ENST00000688244.1:c.340_342del	ENSP00000510355.1:p.Lys114del
ENST00000689001.1:n.1262_1264del
ENST00000689195.1:c.556_558del	ENSP00000509895.1:p.Lys186del
ENST00000689239.1:n.807_809del
ENST00000689795.1:n.901_903del
ENST00000690835.1:c.*19_*21del	ENSP00000509038.1:n.*19_*21del
ENST00000690993.1:n.1395_1397del
ENST00000691295.1:c.*123_*125del	ENSP00000508706.1:n.*123_*125del
ENST00000691918.1:c.930_932del	ENSP00000509525.1:n.930_932del
ENST00000692152.1:c.571_573del	ENSP00000509317.1:p.Lys191del
ENST00000692344.1:n.1127_1129del
ENST00000693363.1:c.682_684del	ENSP00000510411.1:p.Lys228del
ENST00000693367.1:c.640_642del	ENSP00000508815.1:p.Lys214del
ENST00000693639.1:c.633_635del	ENSP00000510223.1:n.633_635del
ENST00000693646.1:c.546_548del	ENSP00000508449.1:n.546_548del
ENST00000352397.10:c.640_642del MANE Select	ENSP00000338461.6:p.Lys214del
ENST00000352397.9:c.640_642del	ENSP00000338461.6:p.Lys214del
ENST00000361740.8:c.739_741del	ENSP00000354468.4:p.Lys247del
ENST00000402438.5:c.571_573del	ENSP00000385679.1:p.Lys191del
ENST00000407332.5:c.571_573del	ENSP00000384457.1:p.Lys191del
ENST00000407623.7:c.571_573del	ENSP00000384834.3:p.Lys191del
ENST00000470741.1:n.2774_2776del
NM_000398.6:c.640_642del	NP_000389.1:p.Lys214del
NM_001129819.2:c.571_573del	NP_001123291.1:p.Lys191del
NM_001171660.1:c.739_741del	NP_001165131.1:p.Lys247del
NM_001171661.1:c.571_573del	NP_001165132.1:p.Lys191del
NM_007326.4:c.571_573del	NP_015565.1:p.Lys191del
NM_000398.7:c.640_642del MANE Select	NP_000389.1:p.Lys214del
NM_001171660.2:c.739_741del	NP_001165131.1:p.Lys247del