Canonical Allele Identifier: CA2815519190
Gene: KIZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.21136450_21136467del , CM000682.2:g.21136450_21136467del GRCh38
NC_000020.10:g.21117091_21117108del , CM000682.1:g.21117091_21117108del GRCh37
NC_000020.9:g.21065091_21065108del NCBI36
NG_033122.1:g.15468_15485del
NG_033122.2:g.15471_15488del

Transcript Alleles

HGVS Amino-acid Change
ENST00000619189.5:c.213_230del MANE Select ENSP00000479542.1:p.Lys71_Arg76del
ENST00000611685.4:c.167-9115_167-9098del
ENST00000616848.4:c.6+4291_6+4308del ENSP00000480612.1:n.6+4291_6+4308del
ENST00000619189.4:c.213_230del ENSP00000479542.1:p.Lys71_Arg76del
ENST00000619574.4:c.169-9115_169-9098del ENSP00000484706.1:n.169-9115_169-9098del
ENST00000620553.2:n.269_286del
ENST00000620891.4:c.6+4291_6+4308del ENSP00000478019.1:n.6+4291_6+4308del
NM_001163022.1:c.6+4291_6+4308del NP_001156494.1:n.6+4291_6+4308del
NM_001163023.1:c.6+4291_6+4308del NP_001156495.1:n.6+4291_6+4308del
NM_001276389.1:c.169-9115_169-9098del NP_001263318.1:n.169-9115_169-9098del
NM_018474.4:c.213_230del NP_060944.3:p.Lys71_Arg76del
XM_011529296.1:c.213_230del XP_011527598.1:p.Lys71_Arg76del
XM_011529297.1:c.213_230del XP_011527599.1:p.Lys71_Arg76del
XM_011529298.1:c.213_230del XP_011527600.1:p.Lys71_Arg76del
XM_011529299.1:c.6+4291_6+4308del XP_011527601.1:n.6+4291_6+4308del
XR_937105.1:n.337_354del
NM_001163022.2:c.6+4291_6+4308del NP_001156494.1:n.6+4291_6+4308del
NM_001163023.2:c.6+4291_6+4308del NP_001156495.1:n.6+4291_6+4308del
NM_001276389.2:c.169-9115_169-9098del NP_001263318.1:n.169-9115_169-9098del
NM_001352434.1:c.213_230del NP_001339363.1:p.Lys71_Arg76del
NM_001352435.1:c.6+4291_6+4308del NP_001339364.1:n.6+4291_6+4308del
NM_001352436.1:c.-174_-157del NP_001339365.1:n.-174_-157del
NM_018474.5:c.213_230del NP_060944.3:p.Lys71_Arg76del
XM_011529296.3:c.213_230del XP_011527598.1:p.Lys71_Arg76del
XM_011529297.3:c.213_230del XP_011527599.1:p.Lys71_Arg76del
XM_011529299.3:c.6+4291_6+4308del XP_011527601.1:n.6+4291_6+4308del
XM_017027951.2:c.-174_-157del XP_016883440.1:n.-174_-157del
XM_017027952.2:c.6+4291_6+4308del XP_016883441.1:n.6+4291_6+4308del
XR_001754334.2:n.279_296del
XR_937105.3:n.279_296del
NM_018474.6:c.213_230del MANE Select NP_060944.3:p.Lys71_Arg76del
NM_001163022.3:c.6+4291_6+4308del NP_001156494.1:n.6+4291_6+4308del
NM_001163023.3:c.6+4291_6+4308del NP_001156495.1:n.6+4291_6+4308del
NM_001352434.2:c.213_230del NP_001339363.1:p.Lys71_Arg76del
NM_001352435.2:c.6+4291_6+4308del NP_001339364.1:n.6+4291_6+4308del
NM_001352436.2:c.-174_-157del NP_001339365.1:n.-174_-157del