Canonical Allele Identifier: CA639499649

Gene: CYB5R3

Linked Data

• gnomAD v2: 22-43026746-CCT-C
• gnomAD v4: 22-42630740-CCT-C
• MyVariant Identifiers: chr22:g.43026747_43026748del (hg19) ; chr22:g.42630741_42630742del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630741_42630742del , CM000684.2:g.42630741_42630742del	GRCh38
NC_000022.10:g.43026747_43026748del , CM000684.1:g.43026747_43026748del	GRCh37
NC_000022.9:g.41356691_41356692del	NCBI36
NG_012194.1:g.23658_23659del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.333+140_333+141del	ENSP00000354468.5:n.333+140_333+141del
ENST00000402438.6:c.264+140_264+141del	ENSP00000385679.1:n.264+140_264+141del
ENST00000407332.6:c.351+140_351+141del	ENSP00000384457.2:n.351+140_351+141del
ENST00000407623.8:c.264+140_264+141del	ENSP00000384834.3:n.264+140_264+141del
ENST00000438270.2:c.264+140_264+141del	ENSP00000403439.2:n.264+140_264+141del
ENST00000466276.2:n.540_541del
ENST00000686129.1:c.264+140_264+141del	ENSP00000508623.1:n.264+140_264+141del
ENST00000686523.1:c.*282+140_*282+141del	ENSP00000508940.1:n.*282+140_*282+141del
ENST00000687183.1:n.394+140_394+141del
ENST00000687198.1:c.264+140_264+141del	ENSP00000508492.1:n.264+140_264+141del
ENST00000688117.1:c.432+140_432+141del	ENSP00000509015.1:n.432+140_432+141del
ENST00000688244.1:c.333+140_333+141del	ENSP00000510355.1:n.333+140_333+141del
ENST00000689001.1:n.740+140_740+141del
ENST00000689195.1:c.333+140_333+141del	ENSP00000509895.1:n.333+140_333+141del
ENST00000689239.1:n.500+140_500+141del
ENST00000689795.1:n.495+140_495+141del
ENST00000690835.1:c.333+140_333+141del	ENSP00000509038.1:n.333+140_333+141del
ENST00000690993.1:n.410+140_410+141del
ENST00000691295.1:c.333+140_333+141del	ENSP00000508706.1:n.333+140_333+141del
ENST00000691918.1:c.312+140_312+141del	ENSP00000509525.1:n.312+140_312+141del
ENST00000692152.1:c.264+140_264+141del	ENSP00000509317.1:n.264+140_264+141del
ENST00000692344.1:n.357+140_357+141del
ENST00000693157.1:c.253+140_253+141del	ENSP00000510610.1:n.253+140_253+141del
ENST00000693363.1:c.333+140_333+141del	ENSP00000510411.1:n.333+140_333+141del
ENST00000693367.1:c.333+140_333+141del	ENSP00000508815.1:n.333+140_333+141del
ENST00000693639.1:c.326+140_326+141del	ENSP00000510223.1:n.326+140_326+141del
ENST00000693646.1:c.239+140_239+141del	ENSP00000508449.1:n.239+140_239+141del
ENST00000352397.10:c.333+140_333+141del MANE Select	ENSP00000338461.6:n.333+140_333+141del
ENST00000352397.9:c.333+140_333+141del	ENSP00000338461.6:n.333+140_333+141del
ENST00000361740.8:c.432+140_432+141del	ENSP00000354468.4:n.432+140_432+141del
ENST00000402438.5:c.264+140_264+141del	ENSP00000385679.1:n.264+140_264+141del
ENST00000407332.5:c.264+140_264+141del	ENSP00000384457.1:n.264+140_264+141del
ENST00000407623.7:c.264+140_264+141del	ENSP00000384834.3:n.264+140_264+141del
ENST00000438270.1:c.264+140_264+141del	ENSP00000403439.1:n.264+140_264+141del
ENST00000470741.1:n.2467+140_2467+141del
NM_000398.6:c.333+140_333+141del	NP_000389.1:n.333+140_333+141del
NM_001129819.2:c.264+140_264+141del	NP_001123291.1:n.264+140_264+141del
NM_001171660.1:c.432+140_432+141del	NP_001165131.1:n.432+140_432+141del
NM_001171661.1:c.264+140_264+141del	NP_001165132.1:n.264+140_264+141del
NM_007326.4:c.264+140_264+141del	NP_015565.1:n.264+140_264+141del
NM_000398.7:c.333+140_333+141del MANE Select	NP_000389.1:n.333+140_333+141del
NM_001171660.2:c.432+140_432+141del	NP_001165131.1:n.432+140_432+141del