Canonical Allele Identifier: CA639498463

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1569317091
• gnomAD v2: 22-43020032-G-GAGATCACCCTGGCACCCCTCTCTCCTTGTCT
• gnomAD v3: 22-42624026-G-GAGATCACCCTGGCACCCCTCTCTCCTTGTCT
• gnomAD v4: 22-42624026-G-GAGATCACCCTGGCACCCCTCTCTCCTTGTCT
• MyVariant Identifiers: chr22:g.43020032_43020033insAGATCACCCTGGCACCCCTCTCTCCTTGTCT (hg19) ; chr22:g.42624026_42624027insAGATCACCCTGGCACCCCTCTCTCCTTGTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42624029_42624059dup , CM000684.2:g.42624029_42624059dup	GRCh38
NC_000022.10:g.43020035_43020065dup , CM000684.1:g.43020035_43020065dup	GRCh37
NC_000022.9:g.41349979_41350009dup	NCBI36
NG_012194.1:g.30343_30373dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.766-169_766-139dup	ENSP00000354468.5:n.766-169_766-139dup
ENST00000402438.6:c.565-169_565-139dup	ENSP00000385679.1:n.565-169_565-139dup
ENST00000407332.6:c.652-169_652-139dup	ENSP00000384457.2:n.652-169_652-139dup
ENST00000407623.8:c.565-169_565-139dup	ENSP00000384834.3:n.565-169_565-139dup
ENST00000617178.5:c.171-169_171-139dup
ENST00000684963.1:n.2374-169_2374-139dup
ENST00000685184.1:n.57_87dup
ENST00000686523.1:c.*583-169_*583-139dup	ENSP00000508940.1:n.*583-169_*583-139dup
ENST00000687183.1:n.910-169_910-139dup
ENST00000687198.1:c.565-169_565-139dup	ENSP00000508492.1:n.565-169_565-139dup
ENST00000688117.1:c.733-169_733-139dup	ENSP00000509015.1:n.733-169_733-139dup
ENST00000688244.1:c.334-169_334-139dup	ENSP00000510355.1:n.334-169_334-139dup
ENST00000689001.1:n.1256-169_1256-139dup
ENST00000689195.1:c.550-169_550-139dup	ENSP00000509895.1:n.550-169_550-139dup
ENST00000689239.1:n.801-169_801-139dup
ENST00000689795.1:n.895-169_895-139dup
ENST00000690835.1:c.*13-169_*13-139dup	ENSP00000509038.1:n.*13-169_*13-139dup
ENST00000690993.1:n.1389-169_1389-139dup
ENST00000691295.1:c.*117-169_*117-139dup	ENSP00000508706.1:n.*117-169_*117-139dup
ENST00000691918.1:c.924-169_924-139dup	ENSP00000509525.1:n.924-169_924-139dup
ENST00000692152.1:c.565-169_565-139dup	ENSP00000509317.1:n.565-169_565-139dup
ENST00000692344.1:n.1121-169_1121-139dup
ENST00000693363.1:c.676-169_676-139dup	ENSP00000510411.1:n.676-169_676-139dup
ENST00000693367.1:c.634-169_634-139dup	ENSP00000508815.1:n.634-169_634-139dup
ENST00000693639.1:c.627-169_627-139dup	ENSP00000510223.1:n.627-169_627-139dup
ENST00000693646.1:c.540-169_540-139dup	ENSP00000508449.1:n.540-169_540-139dup
ENST00000352397.10:c.634-169_634-139dup MANE Select	ENSP00000338461.6:n.634-169_634-139dup
ENST00000352397.9:c.634-169_634-139dup	ENSP00000338461.6:n.634-169_634-139dup
ENST00000361740.8:c.733-169_733-139dup	ENSP00000354468.4:n.733-169_733-139dup
ENST00000402438.5:c.565-169_565-139dup	ENSP00000385679.1:n.565-169_565-139dup
ENST00000407332.5:c.565-169_565-139dup	ENSP00000384457.1:n.565-169_565-139dup
ENST00000407623.7:c.565-169_565-139dup	ENSP00000384834.3:n.565-169_565-139dup
ENST00000470741.1:n.2768-169_2768-139dup
NM_000398.6:c.634-169_634-139dup	NP_000389.1:n.634-169_634-139dup
NM_001129819.2:c.565-169_565-139dup	NP_001123291.1:n.565-169_565-139dup
NM_001171660.1:c.733-169_733-139dup	NP_001165131.1:n.733-169_733-139dup
NM_001171661.1:c.565-169_565-139dup	NP_001165132.1:n.565-169_565-139dup
NM_007326.4:c.565-169_565-139dup	NP_015565.1:n.565-169_565-139dup
NM_000398.7:c.634-169_634-139dup MANE Select	NP_000389.1:n.634-169_634-139dup
NM_001171660.2:c.733-169_733-139dup	NP_001165131.1:n.733-169_733-139dup