Canonical Allele Identifier: CA2766253075
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19705693del , CM000686.2:g.19705693del GRCh38
NC_000024.9:g.21867579del , CM000686.1:g.21867579del GRCh37
NC_000024.8:g.20326967del NCBI36
NG_032920.1:g.44247del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.*302del MANE Select ENSP00000322408.4:n.*302del
ENST00000317961.8:c.*302del ENSP00000322408.4:n.*302del
ENST00000382806.6:c.*302del ENSP00000372256.2:n.*302del
ENST00000469599.6:n.3673del
ENST00000492117.1:n.4967del
ENST00000541639.5:c.*302del ENSP00000444293.1:n.*302del
NM_001146705.1:c.*302del NP_001140177.1:n.*302del
NM_001146706.1:c.*302del NP_001140178.1:n.*302del
NM_004653.4:c.*302del NP_004644.2:n.*302del
XM_005262560.1:c.*302del XP_005262617.1:n.*302del
XM_005262561.1:c.*302del XP_005262618.1:n.*302del
XM_011531468.1:c.*302del XP_011529770.1:n.*302del
XR_430568.2:n.5697del
XM_005262560.3:c.*302del XP_005262617.1:n.*302del
XM_005262561.3:c.*302del XP_005262618.1:n.*302del
XM_011531468.3:c.*302del XP_011529770.1:n.*302del
XM_024452495.1:c.*302del XP_024308263.1:n.*302del
XM_024452496.1:c.*302del XP_024308264.1:n.*302del
XR_001756009.2:n.5660del
XR_001756010.2:n.5628del
XR_001756011.2:n.5525del
XR_001756012.2:n.5673del
XR_001756013.2:n.4991del
XR_002958832.1:n.5245del
XR_002958834.1:n.5316del
XR_002958835.1:n.5199del
XR_002958836.1:n.5850del
XR_002958837.1:n.5657del
XR_244571.4:n.5177del
XR_430568.4:n.5696del
NM_001146706.2:c.*302del NP_001140178.1:n.*302del
NM_004653.5:c.*302del MANE Select NP_004644.2:n.*302del
NM_001146705.2:c.*302del NP_001140177.1:n.*302del