Canonical Allele Identifier: CA2815519247
Gene: KIZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.21136631_21136634del , CM000682.2:g.21136631_21136634del GRCh38
NC_000020.10:g.21117272_21117275del , CM000682.1:g.21117272_21117275del GRCh37
NC_000020.9:g.21065272_21065275del NCBI36
NG_033122.1:g.15649_15652del
NG_033122.2:g.15652_15655del

Transcript Alleles

HGVS Amino-acid Change
ENST00000619189.5:c.315+79_315+82del MANE Select ENSP00000479542.1:n.315+79_315+82del
ENST00000611685.4:c.167-8934_167-8931del
ENST00000616848.4:c.6+4472_6+4475del ENSP00000480612.1:n.6+4472_6+4475del
ENST00000619189.4:c.315+79_315+82del ENSP00000479542.1:n.315+79_315+82del
ENST00000619574.4:c.169-8934_169-8931del ENSP00000484706.1:n.169-8934_169-8931del
ENST00000620553.2:n.371+79_371+82del
ENST00000620891.4:c.6+4472_6+4475del ENSP00000478019.1:n.6+4472_6+4475del
NM_001163022.1:c.6+4472_6+4475del NP_001156494.1:n.6+4472_6+4475del
NM_001163023.1:c.6+4472_6+4475del NP_001156495.1:n.6+4472_6+4475del
NM_001276389.1:c.169-8934_169-8931del NP_001263318.1:n.169-8934_169-8931del
NM_018474.4:c.315+79_315+82del NP_060944.3:n.315+79_315+82del
XM_011529296.1:c.315+79_315+82del XP_011527598.1:n.315+79_315+82del
XM_011529297.1:c.315+79_315+82del XP_011527599.1:n.315+79_315+82del
XM_011529298.1:c.315+79_315+82del XP_011527600.1:n.315+79_315+82del
XM_011529299.1:c.6+4472_6+4475del XP_011527601.1:n.6+4472_6+4475del
XR_937105.1:n.439+79_439+82del
NM_001163022.2:c.6+4472_6+4475del NP_001156494.1:n.6+4472_6+4475del
NM_001163023.2:c.6+4472_6+4475del NP_001156495.1:n.6+4472_6+4475del
NM_001276389.2:c.169-8934_169-8931del NP_001263318.1:n.169-8934_169-8931del
NM_001352434.1:c.315+79_315+82del NP_001339363.1:n.315+79_315+82del
NM_001352435.1:c.6+4472_6+4475del NP_001339364.1:n.6+4472_6+4475del
NM_001352436.1:c.-72+79_-72+82del NP_001339365.1:n.-72+79_-72+82del
NM_018474.5:c.315+79_315+82del NP_060944.3:n.315+79_315+82del
XM_011529296.3:c.315+79_315+82del XP_011527598.1:n.315+79_315+82del
XM_011529297.3:c.315+79_315+82del XP_011527599.1:n.315+79_315+82del
XM_011529299.3:c.6+4472_6+4475del XP_011527601.1:n.6+4472_6+4475del
XM_017027951.2:c.-72+79_-72+82del XP_016883440.1:n.-72+79_-72+82del
XM_017027952.2:c.6+4472_6+4475del XP_016883441.1:n.6+4472_6+4475del
XR_001754334.2:n.381+79_381+82del
XR_937105.3:n.381+79_381+82del
NM_018474.6:c.315+79_315+82del MANE Select NP_060944.3:n.315+79_315+82del
NM_001163022.3:c.6+4472_6+4475del NP_001156494.1:n.6+4472_6+4475del
NM_001163023.3:c.6+4472_6+4475del NP_001156495.1:n.6+4472_6+4475del
NM_001352434.2:c.315+79_315+82del NP_001339363.1:n.315+79_315+82del
NM_001352435.2:c.6+4472_6+4475del NP_001339364.1:n.6+4472_6+4475del
NM_001352436.2:c.-72+79_-72+82del NP_001339365.1:n.-72+79_-72+82del