Canonical Allele Identifier: CA2766253141

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705942_19705946del , CM000686.2:g.19705942_19705946del	GRCh38
NC_000024.9:g.21867828_21867832del , CM000686.1:g.21867828_21867832del	GRCh37
NC_000024.8:g.20327216_20327220del	NCBI36
NG_032920.1:g.43994_43998del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.*49_*53del MANE Select	ENSP00000322408.4:n.*49_*53del
ENST00000317961.8:c.*49_*53del	ENSP00000322408.4:n.*49_*53del
ENST00000382806.6:c.*49_*53del	ENSP00000372256.2:n.*49_*53del
ENST00000469599.6:n.3420_3424del
ENST00000492117.1:n.4714_4718del
ENST00000541639.5:c.*49_*53del	ENSP00000444293.1:n.*49_*53del
NM_001146705.1:c.*49_*53del	NP_001140177.1:n.*49_*53del
NM_001146706.1:c.*49_*53del	NP_001140178.1:n.*49_*53del
NM_004653.4:c.*49_*53del	NP_004644.2:n.*49_*53del
XM_005262560.1:c.*49_*53del	XP_005262617.1:n.*49_*53del
XM_005262561.1:c.*49_*53del	XP_005262618.1:n.*49_*53del
XM_011531468.1:c.*49_*53del	XP_011529770.1:n.*49_*53del
XR_430568.2:n.5444_5448del
XM_005262560.3:c.*49_*53del	XP_005262617.1:n.*49_*53del
XM_005262561.3:c.*49_*53del	XP_005262618.1:n.*49_*53del
XM_011531468.3:c.*49_*53del	XP_011529770.1:n.*49_*53del
XM_024452495.1:c.*49_*53del	XP_024308263.1:n.*49_*53del
XM_024452496.1:c.*49_*53del	XP_024308264.1:n.*49_*53del
XR_001756009.2:n.5407_5411del
XR_001756010.2:n.5375_5379del
XR_001756011.2:n.5272_5276del
XR_001756012.2:n.5420_5424del
XR_001756013.2:n.4738_4742del
XR_002958832.1:n.4992_4996del
XR_002958834.1:n.5063_5067del
XR_002958835.1:n.4946_4950del
XR_002958836.1:n.5597_5601del
XR_002958837.1:n.5404_5408del
XR_244571.4:n.4924_4928del
XR_430568.4:n.5443_5447del
NM_001146706.2:c.*49_*53del	NP_001140178.1:n.*49_*53del
NM_004653.5:c.*49_*53del MANE Select	NP_004644.2:n.*49_*53del
NM_001146705.2:c.*49_*53del	NP_001140177.1:n.*49_*53del