Canonical Allele Identifier: CA2766254037

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19735388_19735393del , CM000686.2:g.19735388_19735393del	GRCh38
NC_000024.9:g.21897274_21897279del , CM000686.1:g.21897274_21897279del	GRCh37
NC_000024.8:g.20356662_20356667del	NCBI36
NG_032920.1:g.14548_14553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.893_898del MANE Select	ENSP00000322408.4:p.Thr298_Thr299del
ENST00000317961.8:c.893_898del	ENSP00000322408.4:p.Thr298_Thr299del
ENST00000382806.6:c.722_727del	ENSP00000372256.2:p.Thr241_Thr242del
ENST00000440077.5:c.770_775del	ENSP00000398543.1:p.Thr257_Thr258del
ENST00000447300.1:c.758_763del	ENSP00000416377.1:p.Thr253_Thr254del
ENST00000541639.5:c.893_898del	ENSP00000444293.1:p.Thr298_Thr299del
NM_001146705.1:c.893_898del	NP_001140177.1:p.Thr298_Thr299del
NM_001146706.1:c.722_727del	NP_001140178.1:p.Thr241_Thr242del
NM_004653.4:c.893_898del	NP_004644.2:p.Thr298_Thr299del
XM_005262560.1:c.758_763del	XP_005262617.1:p.Thr253_Thr254del
XM_005262561.1:c.893_898del	XP_005262618.1:p.Thr298_Thr299del
XM_005262562.2:c.893_898del	XP_005262619.1:p.Thr298_Thr299del
XM_011531468.1:c.893_898del	XP_011529770.1:p.Thr298_Thr299del
XR_244571.2:n.1181_1186del
XR_430568.2:n.1181_1186del
XR_938609.1:n.1181_1186del
XR_938610.1:n.1181_1186del
XM_005262560.3:c.758_763del	XP_005262617.1:p.Thr253_Thr254del
XM_005262561.3:c.893_898del	XP_005262618.1:p.Thr298_Thr299del
XM_011531468.3:c.893_898del	XP_011529770.1:p.Thr298_Thr299del
XM_024452495.1:c.-1225_-1220del	XP_024308263.1:n.-1225_-1220del
XR_001756009.2:n.1180_1185del
XR_001756010.2:n.1180_1185del
XR_001756011.2:n.1045_1050del
XR_001756012.2:n.1180_1185del
XR_001756013.2:n.1180_1185del
XR_002958832.1:n.1180_1185del
XR_002958833.1:n.1180_1185del
XR_002958834.1:n.1180_1185del
XR_002958835.1:n.1180_1185del
XR_002958836.1:n.1180_1185del
XR_002958837.1:n.1180_1185del
XR_244571.4:n.1180_1185del
XR_430568.4:n.1180_1185del
NM_001146706.2:c.722_727del	NP_001140178.1:p.Thr241_Thr242del
NM_004653.5:c.893_898del MANE Select	NP_004644.2:p.Thr298_Thr299del
NM_001146705.2:c.893_898del	NP_001140177.1:p.Thr298_Thr299del