Canonical Allele Identifier: CA2579752089
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19708003del , CM000686.2:g.19708003del GRCh38
NC_000024.9:g.21869889del , CM000686.1:g.21869889del GRCh37
NC_000024.8:g.20329277del NCBI36
NG_032920.1:g.41940del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3333del MANE Select ENSP00000322408.4:p.Leu1112CysfsTer22
ENST00000317961.8:c.3333del ENSP00000322408.4:p.Leu1112CysfsTer22
ENST00000382806.6:c.3162del ENSP00000372256.2:p.Leu1055CysfsTer22
ENST00000415360.1:c.249del ENSP00000389433.1:p.Leu84CysfsTer22
ENST00000440077.5:c.3210del ENSP00000398543.1:p.Leu1071CysfsTer22
ENST00000469599.6:n.1931del
ENST00000492117.1:n.3225del
ENST00000541639.5:c.3426del ENSP00000444293.1:p.Leu1143CysfsTer22
NM_001146705.1:c.3426del NP_001140177.1:p.Leu1143CysfsTer22
NM_001146706.1:c.3162del NP_001140178.1:p.Leu1055CysfsTer22
NM_004653.4:c.3333del NP_004644.2:p.Leu1112CysfsTer22
XM_005262560.1:c.3198del XP_005262617.1:p.Leu1067CysfsTer22
XM_005262561.1:c.3102del XP_005262618.1:p.Leu1035CysfsTer22
XM_011531468.1:c.3255del XP_011529770.1:p.Leu1086CysfsTer22
XR_244571.2:n.3621del
XR_430568.2:n.3955del
XM_005262560.3:c.3198del XP_005262617.1:p.Leu1067CysfsTer22
XM_005262561.3:c.3102del XP_005262618.1:p.Leu1035CysfsTer22
XM_011531468.3:c.3255del XP_011529770.1:p.Leu1086CysfsTer22
XM_024452495.1:c.1323del XP_024308263.1:p.Leu442CysfsTer22
XM_024452496.1:c.1089del XP_024308264.1:p.Leu364CysfsTer22
XR_001756009.2:n.4071del
XR_001756010.2:n.4071del
XR_001756011.2:n.3936del
XR_001756012.2:n.4084del
XR_001756013.2:n.3402del
XR_002958832.1:n.3503del
XR_002958834.1:n.3727del
XR_002958835.1:n.3610del
XR_002958836.1:n.4293del
XR_002958837.1:n.4100del
XR_244571.4:n.3620del
XR_430568.4:n.3954del
NM_001146706.2:c.3162del NP_001140178.1:p.Leu1055CysfsTer22
NM_004653.5:c.3333del MANE Select NP_004644.2:p.Leu1112CysfsTer22
NM_001146705.2:c.3426del NP_001140177.1:p.Leu1143CysfsTer22