Canonical Allele Identifier: CA2652105853

Gene: KIZ

Linked Data

• gnomAD v4: 20-21136404-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.21136406_21136407del , CM000682.2:g.21136406_21136407del	GRCh38
NC_000020.10:g.21117047_21117048del , CM000682.1:g.21117047_21117048del	GRCh37
NC_000020.9:g.21065047_21065048del	NCBI36
NG_033122.1:g.15424_15425del
NG_033122.2:g.15427_15428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619189.5:c.169_170del MANE Select	ENSP00000479542.1:p.Val57LysfsTer11
ENST00000611685.4:c.167-9159_167-9158del
ENST00000612654.1:c.*77_*78del	ENSP00000480859.1:n.*77_*78del
ENST00000616848.4:c.6+4247_6+4248del	ENSP00000480612.1:n.6+4247_6+4248del
ENST00000619189.4:c.169_170del	ENSP00000479542.1:p.Val57LysfsTer11
ENST00000619574.4:c.169-9159_169-9158del	ENSP00000484706.1:n.169-9159_169-9158del
ENST00000620553.2:n.225_226del
ENST00000620891.4:c.6+4247_6+4248del	ENSP00000478019.1:n.6+4247_6+4248del
NM_001163022.1:c.6+4247_6+4248del	NP_001156494.1:n.6+4247_6+4248del
NM_001163023.1:c.6+4247_6+4248del	NP_001156495.1:n.6+4247_6+4248del
NM_001276389.1:c.169-9159_169-9158del	NP_001263318.1:n.169-9159_169-9158del
NM_018474.4:c.169_170del	NP_060944.3:p.Val57LysfsTer11
XM_011529296.1:c.169_170del	XP_011527598.1:p.Val57LysfsTer11
XM_011529297.1:c.169_170del	XP_011527599.1:p.Val57LysfsTer11
XM_011529298.1:c.169_170del	XP_011527600.1:p.Val57LysfsTer11
XM_011529299.1:c.6+4247_6+4248del	XP_011527601.1:n.6+4247_6+4248del
XR_937105.1:n.293_294del
NM_001163022.2:c.6+4247_6+4248del	NP_001156494.1:n.6+4247_6+4248del
NM_001163023.2:c.6+4247_6+4248del	NP_001156495.1:n.6+4247_6+4248del
NM_001276389.2:c.169-9159_169-9158del	NP_001263318.1:n.169-9159_169-9158del
NM_001352434.1:c.169_170del	NP_001339363.1:p.Val57LysfsTer11
NM_001352435.1:c.6+4247_6+4248del	NP_001339364.1:n.6+4247_6+4248del
NM_001352436.1:c.-218_-217del	NP_001339365.1:n.-218_-217del
NM_018474.5:c.169_170del	NP_060944.3:p.Val57LysfsTer11
XM_011529296.3:c.169_170del	XP_011527598.1:p.Val57LysfsTer11
XM_011529297.3:c.169_170del	XP_011527599.1:p.Val57LysfsTer11
XM_011529299.3:c.6+4247_6+4248del	XP_011527601.1:n.6+4247_6+4248del
XM_017027951.2:c.-218_-217del	XP_016883440.1:n.-218_-217del
XM_017027952.2:c.6+4247_6+4248del	XP_016883441.1:n.6+4247_6+4248del
XR_001754334.2:n.235_236del
XR_937105.3:n.235_236del
NM_018474.6:c.169_170del MANE Select	NP_060944.3:p.Val57LysfsTer11
NM_001163022.3:c.6+4247_6+4248del	NP_001156494.1:n.6+4247_6+4248del
NM_001163023.3:c.6+4247_6+4248del	NP_001156495.1:n.6+4247_6+4248del
NM_001352434.2:c.169_170del	NP_001339363.1:p.Val57LysfsTer11
NM_001352435.2:c.6+4247_6+4248del	NP_001339364.1:n.6+4247_6+4248del
NM_001352436.2:c.-218_-217del	NP_001339365.1:n.-218_-217del