Canonical Allele Identifier: CA2657075123

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623764-CCAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623765_42623768del , CM000684.2:g.42623765_42623768del	GRCh38
NC_000022.10:g.43019771_43019774del , CM000684.1:g.43019771_43019774del	GRCh37
NC_000022.9:g.41349715_41349718del	NCBI36
NG_012194.1:g.30632_30635del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.865+21_865+24del	ENSP00000354468.5:n.865+21_865+24del
ENST00000402438.6:c.664+21_664+24del	ENSP00000385679.1:n.664+21_664+24del
ENST00000407332.6:c.751+21_751+24del	ENSP00000384457.2:n.751+21_751+24del
ENST00000407623.8:c.664+21_664+24del	ENSP00000384834.3:n.664+21_664+24del
ENST00000617178.5:c.270+21_270+24del
ENST00000684963.1:n.2473+21_2473+24del
ENST00000685184.1:n.325+21_325+24del
ENST00000686523.1:c.*682+21_*682+24del	ENSP00000508940.1:n.*682+21_*682+24del
ENST00000687183.1:n.1009+21_1009+24del
ENST00000687198.1:c.664+21_664+24del	ENSP00000508492.1:n.664+21_664+24del
ENST00000688117.1:c.832+21_832+24del	ENSP00000509015.1:n.832+21_832+24del
ENST00000688244.1:c.433+21_433+24del	ENSP00000510355.1:n.433+21_433+24del
ENST00000689001.1:n.1355+21_1355+24del
ENST00000689195.1:c.649+21_649+24del	ENSP00000509895.1:n.649+21_649+24del
ENST00000689239.1:n.900+21_900+24del
ENST00000689795.1:n.994+21_994+24del
ENST00000690835.1:c.*112+21_*112+24del	ENSP00000509038.1:n.*112+21_*112+24del
ENST00000690993.1:n.1488+21_1488+24del
ENST00000691295.1:c.*216+21_*216+24del	ENSP00000508706.1:n.*216+21_*216+24del
ENST00000692152.1:c.664+21_664+24del	ENSP00000509317.1:n.664+21_664+24del
ENST00000692344.1:n.1220+21_1220+24del
ENST00000693363.1:c.775+21_775+24del	ENSP00000510411.1:n.775+21_775+24del
ENST00000693367.1:c.733+21_733+24del	ENSP00000508815.1:n.733+21_733+24del
ENST00000352397.10:c.733+21_733+24del MANE Select	ENSP00000338461.6:n.733+21_733+24del
ENST00000352397.9:c.733+21_733+24del	ENSP00000338461.6:n.733+21_733+24del
ENST00000361740.8:c.832+21_832+24del	ENSP00000354468.4:n.832+21_832+24del
ENST00000402438.5:c.664+21_664+24del	ENSP00000385679.1:n.664+21_664+24del
ENST00000407332.5:c.664+21_664+24del	ENSP00000384457.1:n.664+21_664+24del
ENST00000407623.7:c.664+21_664+24del	ENSP00000384834.3:n.664+21_664+24del
ENST00000470741.1:n.2867+21_2867+24del
NM_000398.6:c.733+21_733+24del	NP_000389.1:n.733+21_733+24del
NM_001129819.2:c.664+21_664+24del	NP_001123291.1:n.664+21_664+24del
NM_001171660.1:c.832+21_832+24del	NP_001165131.1:n.832+21_832+24del
NM_001171661.1:c.664+21_664+24del	NP_001165132.1:n.664+21_664+24del
NM_007326.4:c.664+21_664+24del	NP_015565.1:n.664+21_664+24del
NM_000398.7:c.733+21_733+24del MANE Select	NP_000389.1:n.733+21_733+24del
NM_001171660.2:c.832+21_832+24del	NP_001165131.1:n.832+21_832+24del