Canonical Allele Identifier: CA2577491469

Gene: KIZ

Linked Data

• gnomAD v4: 20-21136575-GTTTTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.21136584_21136588del , CM000682.2:g.21136584_21136588del	GRCh38
NC_000020.10:g.21117225_21117229del , CM000682.1:g.21117225_21117229del	GRCh37
NC_000020.9:g.21065225_21065229del	NCBI36
NG_033122.1:g.15602_15606del
NG_033122.2:g.15605_15609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619189.5:c.315+32_315+36del MANE Select	ENSP00000479542.1:n.315+32_315+36del
ENST00000611685.4:c.167-8981_167-8977del
ENST00000616848.4:c.6+4425_6+4429del	ENSP00000480612.1:n.6+4425_6+4429del
ENST00000619189.4:c.315+32_315+36del	ENSP00000479542.1:n.315+32_315+36del
ENST00000619574.4:c.169-8981_169-8977del	ENSP00000484706.1:n.169-8981_169-8977del
ENST00000620553.2:n.371+32_371+36del
ENST00000620891.4:c.6+4425_6+4429del	ENSP00000478019.1:n.6+4425_6+4429del
NM_001163022.1:c.6+4425_6+4429del	NP_001156494.1:n.6+4425_6+4429del
NM_001163023.1:c.6+4425_6+4429del	NP_001156495.1:n.6+4425_6+4429del
NM_001276389.1:c.169-8981_169-8977del	NP_001263318.1:n.169-8981_169-8977del
NM_018474.4:c.315+32_315+36del	NP_060944.3:n.315+32_315+36del
XM_011529296.1:c.315+32_315+36del	XP_011527598.1:n.315+32_315+36del
XM_011529297.1:c.315+32_315+36del	XP_011527599.1:n.315+32_315+36del
XM_011529298.1:c.315+32_315+36del	XP_011527600.1:n.315+32_315+36del
XM_011529299.1:c.6+4425_6+4429del	XP_011527601.1:n.6+4425_6+4429del
XR_937105.1:n.439+32_439+36del
NM_001163022.2:c.6+4425_6+4429del	NP_001156494.1:n.6+4425_6+4429del
NM_001163023.2:c.6+4425_6+4429del	NP_001156495.1:n.6+4425_6+4429del
NM_001276389.2:c.169-8981_169-8977del	NP_001263318.1:n.169-8981_169-8977del
NM_001352434.1:c.315+32_315+36del	NP_001339363.1:n.315+32_315+36del
NM_001352435.1:c.6+4425_6+4429del	NP_001339364.1:n.6+4425_6+4429del
NM_001352436.1:c.-72+32_-72+36del	NP_001339365.1:n.-72+32_-72+36del
NM_018474.5:c.315+32_315+36del	NP_060944.3:n.315+32_315+36del
XM_011529296.3:c.315+32_315+36del	XP_011527598.1:n.315+32_315+36del
XM_011529297.3:c.315+32_315+36del	XP_011527599.1:n.315+32_315+36del
XM_011529299.3:c.6+4425_6+4429del	XP_011527601.1:n.6+4425_6+4429del
XM_017027951.2:c.-72+32_-72+36del	XP_016883440.1:n.-72+32_-72+36del
XM_017027952.2:c.6+4425_6+4429del	XP_016883441.1:n.6+4425_6+4429del
XR_001754334.2:n.381+32_381+36del
XR_937105.3:n.381+32_381+36del
NM_018474.6:c.315+32_315+36del MANE Select	NP_060944.3:n.315+32_315+36del
NM_001163022.3:c.6+4425_6+4429del	NP_001156494.1:n.6+4425_6+4429del
NM_001163023.3:c.6+4425_6+4429del	NP_001156495.1:n.6+4425_6+4429del
NM_001352434.2:c.315+32_315+36del	NP_001339363.1:n.315+32_315+36del
NM_001352435.2:c.6+4425_6+4429del	NP_001339364.1:n.6+4425_6+4429del
NM_001352436.2:c.-72+32_-72+36del	NP_001339365.1:n.-72+32_-72+36del