Canonical Allele Identifier: CA2573055360
Gene: KDM5C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53193308_53193316del , CM000685.2:g.53193308_53193316del GRCh38
NC_000023.10:g.53222490_53222498del , CM000685.1:g.53222490_53222498del GRCh37
NC_000023.9:g.53239215_53239223del NCBI36
NG_008085.1:g.37110_37118del
NG_008085.2:g.37110_37118del

Transcript Alleles

HGVS Amino-acid Change
NM_004187.5:c.4337_4345del MANE Select NP_004178.2:p.His1446_Ser1448del
ENST00000375401.8:c.4337_4345del MANE Select ENSP00000364550.4:p.His1446_Ser1448del
NM_001146702.1:c.4046+185_4046+193del NP_001140174.1:n.4046+185_4046+193del
NM_001146702.2:c.4046+185_4046+193del NP_001140174.1:n.4046+185_4046+193del
NM_001282622.1:c.4334_4342del NP_001269551.1:p.His1445_Ser1447del
NM_001282622.3:c.4334_4342del NP_001269551.1:p.His1445_Ser1447del
NM_001353978.1:c.4328_4336del NP_001340907.1:p.His1443_Ser1445del
NM_001353978.3:c.4328_4336del NP_001340907.1:p.His1443_Ser1445del
NM_001353979.1:c.4314+124_4314+132del NP_001340908.1:n.4314+124_4314+132del
NM_001353979.2:c.4314+124_4314+132del NP_001340908.1:n.4314+124_4314+132del
NM_001353981.1:c.4308+124_4308+132del NP_001340910.1:n.4308+124_4308+132del
NM_001353981.2:c.4308+124_4308+132del NP_001340910.1:n.4308+124_4308+132del
NM_001353982.1:c.4305+124_4305+132del NP_001340911.1:n.4305+124_4305+132del
NM_001353982.2:c.4305+124_4305+132del NP_001340911.1:n.4305+124_4305+132del
NM_001353984.1:c.4308+124_4308+132del NP_001340913.1:n.4308+124_4308+132del
NM_001353984.2:c.4308+124_4308+132del NP_001340913.1:n.4308+124_4308+132del
NM_004187.3:c.4337_4345del NP_004178.2:p.His1446_Ser1448del
NR_148672.1:n.4850+124_4850+132del
NR_148672.2:n.4635+124_4635+132del
NR_148673.1:n.4838+124_4838+132del
NR_148673.2:n.4623+124_4623+132del
NR_148674.1:n.4718+124_4718+132del
NR_148674.2:n.4503+124_4503+132del
ENST00000375379.7:c.4328_4336del ENSP00000364528.3:p.His1443_Ser1445del
ENST00000375383.7:c.4205_4213del ENSP00000364532.3:p.His1402_Ser1404del
ENST00000375401.7:c.4337_4345del ENSP00000364550.3:p.His1446_Ser1448del
ENST00000404049.7:c.4334_4342del ENSP00000385394.3:p.His1445_Ser1447del
ENST00000452825.7:c.4046+185_4046+193del ENSP00000445176.1:n.4046+185_4046+193del
ENST00000685423.1:c.4317+124_4317+132del ENSP00000508806.1:n.4317+124_4317+132del
ENST00000685641.1:c.4308+124_4308+132del ENSP00000509818.1:n.4308+124_4308+132del
ENST00000687695.1:c.4305+124_4305+132del ENSP00000508631.1:n.4305+124_4305+132del
ENST00000688699.1:c.4308+124_4308+132del ENSP00000510430.1:n.4308+124_4308+132del
ENST00000691505.1:c.4308+124_4308+132del ENSP00000510354.1:n.4308+124_4308+132del
ENST00000693277.1:c.3813+124_3813+132del ENSP00000510522.1:n.3813+124_3813+132del
XM_005262035.3:c.4328_4336del XP_005262092.1:p.His1443_Ser1445del
XM_006724609.2:c.4247+185_4247+193del XP_006724672.1:n.4247+185_4247+193del
XM_011530824.1:c.4259_4267del XP_011529126.1:p.His1420_Ser1422del
XM_011530824.3:c.4259_4267del XP_011529126.1:p.His1420_Ser1422del
XM_011530825.1:c.4214_4222del XP_011529127.1:p.His1405_Ser1407del
XM_011530825.3:c.4214_4222del XP_011529127.1:p.His1405_Ser1407del
XM_011530826.1:c.4205_4213del XP_011529128.1:p.His1402_Ser1404del
XM_011530826.3:c.4205_4213del XP_011529128.1:p.His1402_Ser1404del
XM_011530827.1:c.4317+124_4317+132del XP_011529129.1:n.4317+124_4317+132del
XM_011530827.3:c.4317+124_4317+132del XP_011529129.1:n.4317+124_4317+132del
XM_011530828.1:c.4317+124_4317+132del XP_011529130.1:n.4317+124_4317+132del
XM_011530828.2:c.4317+124_4317+132del XP_011529130.1:n.4317+124_4317+132del
XM_011530829.1:c.3842_3850del XP_011529131.1:p.His1281_Ser1283del
XM_011530829.2:c.3842_3850del XP_011529131.1:p.His1281_Ser1283del
XM_011530830.1:c.3842_3850del XP_011529132.1:p.His1281_Ser1283del
XM_011530830.2:c.3842_3850del XP_011529132.1:p.His1281_Ser1283del
XM_011530831.1:c.3353_3361del XP_011529133.1:p.His1118_Ser1120del
XM_011530831.2:c.3353_3361del XP_011529133.1:p.His1118_Ser1120del
XM_024452466.1:c.4325_4333del XP_024308234.1:p.His1442_Ser1444del
XR_001755735.2:n.4634+124_4634+132del
XR_001755736.2:n.4643+124_4643+132del
XR_001755737.2:n.4634+124_4634+132del
XR_938369.1:n.4663+124_4663+132del
XR_938370.1:n.4663+124_4663+132del
XR_938370.3:n.4643+124_4643+132del
XR_938371.1:n.4663+124_4663+132del
XR_938372.1:n.4663+124_4663+132del
XR_938373.1:n.4663+124_4663+132del