Canonical Allele Identifier: CA2579749590

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19735423_19735425del , CM000686.2:g.19735423_19735425del	GRCh38
NC_000024.9:g.21897309_21897311del , CM000686.1:g.21897309_21897311del	GRCh37
NC_000024.8:g.20356697_20356699del	NCBI36
NG_032920.1:g.14519_14521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.864_866del MANE Select	ENSP00000322408.4:p.Gln288del
ENST00000317961.8:c.864_866del	ENSP00000322408.4:p.Gln288del
ENST00000382806.6:c.693_695del	ENSP00000372256.2:p.Gln231del
ENST00000440077.5:c.741_743del	ENSP00000398543.1:p.Gln247del
ENST00000447300.1:c.729_731del	ENSP00000416377.1:p.Gln243del
ENST00000541639.5:c.864_866del	ENSP00000444293.1:p.Gln288del
NM_001146705.1:c.864_866del	NP_001140177.1:p.Gln288del
NM_001146706.1:c.693_695del	NP_001140178.1:p.Gln231del
NM_004653.4:c.864_866del	NP_004644.2:p.Gln288del
XM_005262560.1:c.729_731del	XP_005262617.1:p.Gln243del
XM_005262561.1:c.864_866del	XP_005262618.1:p.Gln288del
XM_005262562.2:c.864_866del	XP_005262619.1:p.Gln288del
XM_011531468.1:c.864_866del	XP_011529770.1:p.Gln288del
XR_244571.2:n.1152_1154del
XR_430568.2:n.1152_1154del
XR_938609.1:n.1152_1154del
XR_938610.1:n.1152_1154del
XM_005262560.3:c.729_731del	XP_005262617.1:p.Gln243del
XM_005262561.3:c.864_866del	XP_005262618.1:p.Gln288del
XM_011531468.3:c.864_866del	XP_011529770.1:p.Gln288del
XM_024452495.1:c.-1254_-1252del	XP_024308263.1:n.-1254_-1252del
XR_001756009.2:n.1151_1153del
XR_001756010.2:n.1151_1153del
XR_001756011.2:n.1016_1018del
XR_001756012.2:n.1151_1153del
XR_001756013.2:n.1151_1153del
XR_002958832.1:n.1151_1153del
XR_002958833.1:n.1151_1153del
XR_002958834.1:n.1151_1153del
XR_002958835.1:n.1151_1153del
XR_002958836.1:n.1151_1153del
XR_002958837.1:n.1151_1153del
XR_244571.4:n.1151_1153del
XR_430568.4:n.1151_1153del
NM_001146706.2:c.693_695del	NP_001140178.1:p.Gln231del
NM_004653.5:c.864_866del MANE Select	NP_004644.2:p.Gln288del
NM_001146705.2:c.864_866del	NP_001140177.1:p.Gln288del