Canonical Allele Identifier: CA2579749544

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19732100del , CM000686.2:g.19732100del	GRCh38
NC_000024.9:g.21893986del , CM000686.1:g.21893986del	GRCh37
NC_000024.8:g.20353374del	NCBI36
NG_032920.1:g.17843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.1161del MANE Select	ENSP00000322408.4:p.Phe387LeufsTer25
ENST00000317961.8:c.1161del	ENSP00000322408.4:p.Phe387LeufsTer25
ENST00000382806.6:c.990del	ENSP00000372256.2:p.Phe330LeufsTer25
ENST00000440077.5:c.1038del	ENSP00000398543.1:p.Phe346LeufsTer25
ENST00000447300.1:c.1026del	ENSP00000416377.1:p.Phe342LeufsTer25
ENST00000541639.5:c.1161del	ENSP00000444293.1:p.Phe387LeufsTer25
NM_001146705.1:c.1161del	NP_001140177.1:p.Phe387LeufsTer25
NM_001146706.1:c.990del	NP_001140178.1:p.Phe330LeufsTer25
NM_004653.4:c.1161del	NP_004644.2:p.Phe387LeufsTer25
XM_005262560.1:c.1026del	XP_005262617.1:p.Phe342LeufsTer25
XM_005262561.1:c.1161del	XP_005262618.1:p.Phe387LeufsTer25
XM_005262562.2:c.1161del	XP_005262619.1:p.Phe387LeufsTer25
XM_011531468.1:c.1161del	XP_011529770.1:p.Phe387LeufsTer25
XR_244571.2:n.1449del
XR_430568.2:n.1449del
XR_938609.1:n.1449del
XR_938610.1:n.1449del
XM_005262560.3:c.1026del	XP_005262617.1:p.Phe342LeufsTer25
XM_005262561.3:c.1161del	XP_005262618.1:p.Phe387LeufsTer25
XM_011531468.3:c.1161del	XP_011529770.1:p.Phe387LeufsTer25
XM_024452495.1:c.-957del	XP_024308263.1:n.-957del
XR_001756009.2:n.1448del
XR_001756010.2:n.1448del
XR_001756011.2:n.1313del
XR_001756012.2:n.1448del
XR_001756013.2:n.1448del
XR_002958832.1:n.1448del
XR_002958833.1:n.1448del
XR_002958834.1:n.1448del
XR_002958835.1:n.1448del
XR_002958836.1:n.1448del
XR_002958837.1:n.1448del
XR_244571.4:n.1448del
XR_430568.4:n.1448del
NM_001146706.2:c.990del	NP_001140178.1:p.Phe330LeufsTer25
NM_004653.5:c.1161del MANE Select	NP_004644.2:p.Phe387LeufsTer25
NM_001146705.2:c.1161del	NP_001140177.1:p.Phe387LeufsTer25