Canonical Allele Identifier: CA2766253095
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19705821del , CM000686.2:g.19705821del GRCh38
NC_000024.9:g.21867707del , CM000686.1:g.21867707del GRCh37
NC_000024.8:g.20327095del NCBI36
NG_032920.1:g.44119del

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.*174del MANE Select ENSP00000322408.4:n.*174del
ENST00000317961.8:c.*174del ENSP00000322408.4:n.*174del
ENST00000382806.6:c.*174del ENSP00000372256.2:n.*174del
ENST00000469599.6:n.3545del
ENST00000492117.1:n.4839del
ENST00000541639.5:c.*174del ENSP00000444293.1:n.*174del
NM_001146705.1:c.*174del NP_001140177.1:n.*174del
NM_001146706.1:c.*174del NP_001140178.1:n.*174del
NM_004653.4:c.*174del NP_004644.2:n.*174del
XM_005262560.1:c.*174del XP_005262617.1:n.*174del
XM_005262561.1:c.*174del XP_005262618.1:n.*174del
XM_011531468.1:c.*174del XP_011529770.1:n.*174del
XR_430568.2:n.5569del
XM_005262560.3:c.*174del XP_005262617.1:n.*174del
XM_005262561.3:c.*174del XP_005262618.1:n.*174del
XM_011531468.3:c.*174del XP_011529770.1:n.*174del
XM_024452495.1:c.*174del XP_024308263.1:n.*174del
XM_024452496.1:c.*174del XP_024308264.1:n.*174del
XR_001756009.2:n.5532del
XR_001756010.2:n.5500del
XR_001756011.2:n.5397del
XR_001756012.2:n.5545del
XR_001756013.2:n.4863del
XR_002958832.1:n.5117del
XR_002958834.1:n.5188del
XR_002958835.1:n.5071del
XR_002958836.1:n.5722del
XR_002958837.1:n.5529del
XR_244571.4:n.5049del
XR_430568.4:n.5568del
NM_001146706.2:c.*174del NP_001140178.1:n.*174del
NM_004653.5:c.*174del MANE Select NP_004644.2:n.*174del
NM_001146705.2:c.*174del NP_001140177.1:n.*174del