Canonical Allele Identifier: CA2579752074
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707581_19707582del , CM000686.2:g.19707581_19707582del GRCh38
NC_000024.9:g.21869467_21869468del , CM000686.1:g.21869467_21869468del GRCh37
NC_000024.8:g.20328855_20328856del NCBI36
NG_032920.1:g.42361_42362del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3567_3568del MANE Select ENSP00000322408.4:p.Cys1189Ter
ENST00000317961.8:c.3567_3568del ENSP00000322408.4:p.Cys1189Ter
ENST00000382806.6:c.3396_3397del ENSP00000372256.2:p.Cys1132Ter
ENST00000415360.1:c.483_484del ENSP00000389433.1:p.Cys161Ter
ENST00000440077.5:c.3444_3445del ENSP00000398543.1:p.Cys1148Ter
ENST00000469599.6:n.2165_2166del
ENST00000492117.1:n.3459_3460del
ENST00000541639.5:c.3660_3661del ENSP00000444293.1:p.Cys1220Ter
NM_001146705.1:c.3660_3661del NP_001140177.1:p.Cys1220Ter
NM_001146706.1:c.3396_3397del NP_001140178.1:p.Cys1132Ter
NM_004653.4:c.3567_3568del NP_004644.2:p.Cys1189Ter
XM_005262560.1:c.3432_3433del XP_005262617.1:p.Cys1144Ter
XM_005262561.1:c.3336_3337del XP_005262618.1:p.Cys1112Ter
XM_011531468.1:c.3489_3490del XP_011529770.1:p.Cys1163Ter
XR_244571.2:n.3855_3856del
XR_430568.2:n.4189_4190del
XM_005262560.3:c.3432_3433del XP_005262617.1:p.Cys1144Ter
XM_005262561.3:c.3336_3337del XP_005262618.1:p.Cys1112Ter
XM_011531468.3:c.3489_3490del XP_011529770.1:p.Cys1163Ter
XM_024452495.1:c.1557_1558del XP_024308263.1:p.Cys519Ter
XM_024452496.1:c.1323_1324del XP_024308264.1:p.Cys441Ter
XR_001756009.2:n.4305_4306del
XR_001756010.2:n.4305_4306del
XR_001756011.2:n.4170_4171del
XR_001756012.2:n.4318_4319del
XR_001756013.2:n.3636_3637del
XR_002958832.1:n.3737_3738del
XR_002958834.1:n.3961_3962del
XR_002958835.1:n.3844_3845del
XR_002958836.1:n.4527_4528del
XR_002958837.1:n.4334_4335del
XR_244571.4:n.3854_3855del
XR_430568.4:n.4188_4189del
NM_001146706.2:c.3396_3397del NP_001140178.1:p.Cys1132Ter
NM_004653.5:c.3567_3568del MANE Select NP_004644.2:p.Cys1189Ter
NM_001146705.2:c.3660_3661del NP_001140177.1:p.Cys1220Ter