Canonical Allele Identifier: CA2657074067

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42631167-T-TGGGAGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42631168_42631169insGGAGGGGG , CM000684.2:g.42631168_42631169insGGAGGGGG	GRCh38
NC_000022.10:g.43027174_43027175insGGAGGGGG , CM000684.1:g.43027174_43027175insGGAGGGGG	GRCh37
NC_000022.9:g.41357118_41357119insGGAGGGGG	NCBI36
NG_012194.1:g.23232_23233insCCCCTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.227-180_227-179insCCCCTCCC	ENSP00000354468.5:n.227-180_227-179insCCCCTCCC
ENST00000402438.6:c.158-180_158-179insCCCCTCCC	ENSP00000385679.1:n.158-180_158-179insCCCCTCCC
ENST00000407332.6:c.245-180_245-179insCCCCTCCC	ENSP00000384457.2:n.245-180_245-179insCCCCTCCC
ENST00000407623.8:c.158-180_158-179insCCCCTCCC	ENSP00000384834.3:n.158-180_158-179insCCCCTCCC
ENST00000438270.2:c.158-180_158-179insCCCCTCCC	ENSP00000403439.2:n.158-180_158-179insCCCCTCCC
ENST00000466276.2:n.294-180_294-179insCCCCTCCC
ENST00000686129.1:c.158-180_158-179insCCCCTCCC	ENSP00000508623.1:n.158-180_158-179insCCCCTCCC
ENST00000686523.1:c.*176-180_*176-179insCCCCTCCC	ENSP00000508940.1:n.*176-180_*176-179insCCCCTCCC
ENST00000687183.1:n.288-180_288-179insCCCCTCCC
ENST00000687198.1:c.158-180_158-179insCCCCTCCC	ENSP00000508492.1:n.158-180_158-179insCCCCTCCC
ENST00000688117.1:c.326-180_326-179insCCCCTCCC	ENSP00000509015.1:n.326-180_326-179insCCCCTCCC
ENST00000688244.1:c.227-180_227-179insCCCCTCCC	ENSP00000510355.1:n.227-180_227-179insCCCCTCCC
ENST00000689001.1:n.454_455insCCCCTCCC
ENST00000689195.1:c.227-180_227-179insCCCCTCCC	ENSP00000509895.1:n.227-180_227-179insCCCCTCCC
ENST00000689239.1:n.394-180_394-179insCCCCTCCC
ENST00000689795.1:n.389-180_389-179insCCCCTCCC
ENST00000690835.1:c.227-180_227-179insCCCCTCCC	ENSP00000509038.1:n.227-180_227-179insCCCCTCCC
ENST00000690993.1:n.304-180_304-179insCCCCTCCC
ENST00000691295.1:c.227-180_227-179insCCCCTCCC	ENSP00000508706.1:n.227-180_227-179insCCCCTCCC
ENST00000691918.1:c.206-180_206-179insCCCCTCCC	ENSP00000509525.1:n.206-180_206-179insCCCCTCCC
ENST00000692152.1:c.158-180_158-179insCCCCTCCC	ENSP00000509317.1:n.158-180_158-179insCCCCTCCC
ENST00000692344.1:n.251-180_251-179insCCCCTCCC
ENST00000693157.1:c.147-180_147-179insCCCCTCCC	ENSP00000510610.1:n.147-180_147-179insCCCCTCCC
ENST00000693363.1:c.227-180_227-179insCCCCTCCC	ENSP00000510411.1:n.227-180_227-179insCCCCTCCC
ENST00000693367.1:c.227-180_227-179insCCCCTCCC	ENSP00000508815.1:n.227-180_227-179insCCCCTCCC
ENST00000693639.1:c.220-180_220-179insCCCCTCCC	ENSP00000510223.1:n.220-180_220-179insCCCCTCCC
ENST00000693646.1:c.133-180_133-179insCCCCTCCC	ENSP00000508449.1:n.133-180_133-179insCCCCTCCC
ENST00000693716.1:n.455-180_455-179insCCCCTCCC
ENST00000352397.10:c.227-180_227-179insCCCCTCCC MANE Select	ENSP00000338461.6:n.227-180_227-179insCCCCTCCC
ENST00000352397.9:c.227-180_227-179insCCCCTCCC	ENSP00000338461.6:n.227-180_227-179insCCCCTCCC
ENST00000361740.8:c.326-180_326-179insCCCCTCCC	ENSP00000354468.4:n.326-180_326-179insCCCCTCCC
ENST00000402438.5:c.158-180_158-179insCCCCTCCC	ENSP00000385679.1:n.158-180_158-179insCCCCTCCC
ENST00000407332.5:c.158-180_158-179insCCCCTCCC	ENSP00000384457.1:n.158-180_158-179insCCCCTCCC
ENST00000407623.7:c.158-180_158-179insCCCCTCCC	ENSP00000384834.3:n.158-180_158-179insCCCCTCCC
ENST00000438270.1:c.158-180_158-179insCCCCTCCC	ENSP00000403439.1:n.158-180_158-179insCCCCTCCC
ENST00000466276.1:n.454_455insCCCCTCCC
ENST00000470741.1:n.2181_2182insCCCCTCCC
NM_000398.6:c.227-180_227-179insCCCCTCCC	NP_000389.1:n.227-180_227-179insCCCCTCCC
NM_001129819.2:c.158-180_158-179insCCCCTCCC	NP_001123291.1:n.158-180_158-179insCCCCTCCC
NM_001171660.1:c.326-180_326-179insCCCCTCCC	NP_001165131.1:n.326-180_326-179insCCCCTCCC
NM_001171661.1:c.158-180_158-179insCCCCTCCC	NP_001165132.1:n.158-180_158-179insCCCCTCCC
NM_007326.4:c.158-180_158-179insCCCCTCCC	NP_015565.1:n.158-180_158-179insCCCCTCCC
NM_000398.7:c.227-180_227-179insCCCCTCCC MANE Select	NP_000389.1:n.227-180_227-179insCCCCTCCC
NM_001171660.2:c.326-180_326-179insCCCCTCCC	NP_001165131.1:n.326-180_326-179insCCCCTCCC