Canonical Allele Identifier: CA2657073735

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42630980-T-TCACTTGGCAGATCACTTGAAGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630980_42630981insCACTTGGCAGATCACTTGAAGCCA , CM000684.2:g.42630980_42630981insCACTTGGCAGATCACTTGAAGCCA	GRCh38
NC_000022.10:g.43026986_43026987insCACTTGGCAGATCACTTGAAGCCA , CM000684.1:g.43026986_43026987insCACTTGGCAGATCACTTGAAGCCA	GRCh37
NC_000022.9:g.41356930_41356931insCACTTGGCAGATCACTTGAAGCCA	NCBI36
NG_012194.1:g.23419_23420insTGGCTTCAAGTGATCTGCCAAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.234_235insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000354468.5:p.His78_Ile79insTrpLeuGlnValIleCysGlnVal
ENST00000402438.6:c.165_166insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000385679.1:p.His55_Ile56insTrpLeuGlnValIleCysGlnVal
ENST00000407332.6:c.252_253insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000384457.2:p.His84_Ile85insTrpLeuGlnValIleCysGlnVal
ENST00000407623.8:c.165_166insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000384834.3:p.His55_Ile56insTrpLeuGlnValIleCysGlnVal
ENST00000438270.2:c.165_166insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000403439.2:p.His55_Ile56insTrpLeuGlnValIleCysGlnVal
ENST00000466276.2:n.301_302insTGGCTTCAAGTGATCTGCCAAGTG
ENST00000686129.1:c.165_166insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000508623.1:p.His55_Ile56insTrpLeuGlnValIleCysGlnVal
ENST00000686523.1:c.*183_*184insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000508940.1:n.*183_*184insTGGCTTCAAGTGATCTGCCAAGTG
ENST00000687183.1:n.295_296insTGGCTTCAAGTGATCTGCCAAGTG
ENST00000687198.1:c.165_166insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000508492.1:p.His55_Ile56insTrpLeuGlnValIleCysGlnVal
ENST00000688117.1:c.333_334insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000509015.1:p.His111_Ile112insTrpLeuGlnValIleCysGlnVal
ENST00000688244.1:c.234_235insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000510355.1:p.His78_Ile79insTrpLeuGlnValIleCysGlnVal
ENST00000689001.1:n.641_642insTGGCTTCAAGTGATCTGCCAAGTG
ENST00000689195.1:c.234_235insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000509895.1:p.His78_Ile79insTrpLeuGlnValIleCysGlnVal
ENST00000689239.1:n.401_402insTGGCTTCAAGTGATCTGCCAAGTG
ENST00000689795.1:n.396_397insTGGCTTCAAGTGATCTGCCAAGTG
ENST00000690835.1:c.234_235insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000509038.1:p.His78_Ile79insTrpLeuGlnValIleCysGlnVal
ENST00000690993.1:n.311_312insTGGCTTCAAGTGATCTGCCAAGTG
ENST00000691295.1:c.234_235insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000508706.1:p.His78_Ile79insTrpLeuGlnValIleCysGlnVal
ENST00000691918.1:c.213_214insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000509525.1:p.His71_Ile72insTrpLeuGlnValIleCysGlnVal
ENST00000692152.1:c.165_166insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000509317.1:p.His55_Ile56insTrpLeuGlnValIleCysGlnVal
ENST00000692344.1:n.258_259insTGGCTTCAAGTGATCTGCCAAGTG
ENST00000693157.1:c.154_155insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000510610.1:p.His52delinsLeuAlaSerSerAspLeuProSerAsp
ENST00000693363.1:c.234_235insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000510411.1:p.His78_Ile79insTrpLeuGlnValIleCysGlnVal
ENST00000693367.1:c.234_235insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000508815.1:p.His78_Ile79insTrpLeuGlnValIleCysGlnVal
ENST00000693639.1:c.227_228insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000510223.1:p.Thr77GlyfsTer4
ENST00000693646.1:c.140_141insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000508449.1:p.Thr48GlyfsTer4
ENST00000693716.1:n.462_463insTGGCTTCAAGTGATCTGCCAAGTG
ENST00000352397.10:c.234_235insTGGCTTCAAGTGATCTGCCAAGTG MANE Select	ENSP00000338461.6:p.His78_Ile79insTrpLeuGlnValIleCysGlnVal
ENST00000352397.9:c.234_235insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000338461.6:p.His78_Ile79insTrpLeuGlnValIleCysGlnVal
ENST00000361740.8:c.333_334insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000354468.4:p.His111_Ile112insTrpLeuGlnValIleCysGlnVal
ENST00000402438.5:c.165_166insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000385679.1:p.His55_Ile56insTrpLeuGlnValIleCysGlnVal
ENST00000407332.5:c.165_166insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000384457.1:p.His55_Ile56insTrpLeuGlnValIleCysGlnVal
ENST00000407623.7:c.165_166insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000384834.3:p.His55_Ile56insTrpLeuGlnValIleCysGlnVal
ENST00000438270.1:c.165_166insTGGCTTCAAGTGATCTGCCAAGTG	ENSP00000403439.1:p.His55_Ile56insTrpLeuGlnValIleCysGlnVal
ENST00000470741.1:n.2368_2369insTGGCTTCAAGTGATCTGCCAAGTG
NM_000398.6:c.234_235insTGGCTTCAAGTGATCTGCCAAGTG	NP_000389.1:p.His78_Ile79insTrpLeuGlnValIleCysGlnVal
NM_001129819.2:c.165_166insTGGCTTCAAGTGATCTGCCAAGTG	NP_001123291.1:p.His55_Ile56insTrpLeuGlnValIleCysGlnVal
NM_001171660.1:c.333_334insTGGCTTCAAGTGATCTGCCAAGTG	NP_001165131.1:p.His111_Ile112insTrpLeuGlnValIleCysGlnVal
NM_001171661.1:c.165_166insTGGCTTCAAGTGATCTGCCAAGTG	NP_001165132.1:p.His55_Ile56insTrpLeuGlnValIleCysGlnVal
NM_007326.4:c.165_166insTGGCTTCAAGTGATCTGCCAAGTG	NP_015565.1:p.His55_Ile56insTrpLeuGlnValIleCysGlnVal
NM_000398.7:c.234_235insTGGCTTCAAGTGATCTGCCAAGTG MANE Select	NP_000389.1:p.His78_Ile79insTrpLeuGlnValIleCysGlnVal
NM_001171660.2:c.333_334insTGGCTTCAAGTGATCTGCCAAGTG	NP_001165131.1:p.His111_Ile112insTrpLeuGlnValIleCysGlnVal