Canonical Allele Identifier: CA312976895

Gene: KIZ

Linked Data

• dbSNP Id: rs371405848
• gnomAD v2: 20-21117253-TC-T
• gnomAD v3: 20-21136612-TC-T
• gnomAD v4: 20-21136612-TC-T
• MyVariant Identifiers: chr20:g.21117254del (hg19) ; chr20:g.21136613del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.21136613del , CM000682.2:g.21136613del	GRCh38
NC_000020.10:g.21117254del , CM000682.1:g.21117254del	GRCh37
NC_000020.9:g.21065254del	NCBI36
NG_033122.1:g.15631del
NG_033122.2:g.15634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619189.5:c.315+61del MANE Select	ENSP00000479542.1:n.315+61del
ENST00000611685.4:c.167-8952del
ENST00000616848.4:c.6+4454del	ENSP00000480612.1:n.6+4454del
ENST00000619189.4:c.315+61del	ENSP00000479542.1:n.315+61del
ENST00000619574.4:c.169-8952del	ENSP00000484706.1:n.169-8952del
ENST00000620553.2:n.371+61del
ENST00000620891.4:c.6+4454del	ENSP00000478019.1:n.6+4454del
NM_001163022.1:c.6+4454del	NP_001156494.1:n.6+4454del
NM_001163023.1:c.6+4454del	NP_001156495.1:n.6+4454del
NM_001276389.1:c.169-8952del	NP_001263318.1:n.169-8952del
NM_018474.4:c.315+61del	NP_060944.3:n.315+61del
XM_011529296.1:c.315+61del	XP_011527598.1:n.315+61del
XM_011529297.1:c.315+61del	XP_011527599.1:n.315+61del
XM_011529298.1:c.315+61del	XP_011527600.1:n.315+61del
XM_011529299.1:c.6+4454del	XP_011527601.1:n.6+4454del
XR_937105.1:n.439+61del
NM_001163022.2:c.6+4454del	NP_001156494.1:n.6+4454del
NM_001163023.2:c.6+4454del	NP_001156495.1:n.6+4454del
NM_001276389.2:c.169-8952del	NP_001263318.1:n.169-8952del
NM_001352434.1:c.315+61del	NP_001339363.1:n.315+61del
NM_001352435.1:c.6+4454del	NP_001339364.1:n.6+4454del
NM_001352436.1:c.-72+61del	NP_001339365.1:n.-72+61del
NM_018474.5:c.315+61del	NP_060944.3:n.315+61del
XM_011529296.3:c.315+61del	XP_011527598.1:n.315+61del
XM_011529297.3:c.315+61del	XP_011527599.1:n.315+61del
XM_011529299.3:c.6+4454del	XP_011527601.1:n.6+4454del
XM_017027951.2:c.-72+61del	XP_016883440.1:n.-72+61del
XM_017027952.2:c.6+4454del	XP_016883441.1:n.6+4454del
XR_001754334.2:n.381+61del
XR_937105.3:n.381+61del
NM_018474.6:c.315+61del MANE Select	NP_060944.3:n.315+61del
NM_001163022.3:c.6+4454del	NP_001156494.1:n.6+4454del
NM_001163023.3:c.6+4454del	NP_001156495.1:n.6+4454del
NM_001352434.2:c.315+61del	NP_001339363.1:n.315+61del
NM_001352435.2:c.6+4454del	NP_001339364.1:n.6+4454del
NM_001352436.2:c.-72+61del	NP_001339365.1:n.-72+61del