Canonical Allele Identifier: CA2766253168

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706151del , CM000686.2:g.19706151del	GRCh38
NC_000024.9:g.21868037del , CM000686.1:g.21868037del	GRCh37
NC_000024.8:g.20327425del	NCBI36
NG_032920.1:g.43790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4465del MANE Select	ENSP00000322408.4:p.Arg1489ValfsTer6
ENST00000317961.8:c.4465del	ENSP00000322408.4:p.Arg1489ValfsTer6
ENST00000382806.6:c.4294del	ENSP00000372256.2:p.Arg1432ValfsTer6
ENST00000440077.5:c.4342del	ENSP00000398543.1:p.Arg1448ValfsTer6
ENST00000469599.6:n.3216del
ENST00000492117.1:n.4510del
ENST00000541639.5:c.4558del	ENSP00000444293.1:p.Arg1520ValfsTer6
NM_001146705.1:c.4558del	NP_001140177.1:p.Arg1520ValfsTer6
NM_001146706.1:c.4294del	NP_001140178.1:p.Arg1432ValfsTer6
NM_004653.4:c.4465del	NP_004644.2:p.Arg1489ValfsTer6
XM_005262560.1:c.4330del	XP_005262617.1:p.Arg1444ValfsTer6
XM_005262561.1:c.4234del	XP_005262618.1:p.Arg1412ValfsTer6
XM_011531468.1:c.4387del	XP_011529770.1:p.Arg1463ValfsTer6
XR_430568.2:n.5240del
XM_005262560.3:c.4330del	XP_005262617.1:p.Arg1444ValfsTer6
XM_005262561.3:c.4234del	XP_005262618.1:p.Arg1412ValfsTer6
XM_011531468.3:c.4387del	XP_011529770.1:p.Arg1463ValfsTer6
XM_024452495.1:c.2455del	XP_024308263.1:p.Arg819ValfsTer6
XM_024452496.1:c.2221del	XP_024308264.1:p.Arg741ValfsTer6
XR_001756009.2:n.5203del
XR_001756010.2:n.5171del
XR_001756011.2:n.5068del
XR_001756012.2:n.5216del
XR_001756013.2:n.4534del
XR_002958832.1:n.4788del
XR_002958834.1:n.4859del
XR_002958835.1:n.4742del
XR_002958836.1:n.5393del
XR_002958837.1:n.5200del
XR_244571.4:n.4720del
XR_430568.4:n.5239del
NM_001146706.2:c.4294del	NP_001140178.1:p.Arg1432ValfsTer6
NM_004653.5:c.4465del MANE Select	NP_004644.2:p.Arg1489ValfsTer6
NM_001146705.2:c.4558del	NP_001140177.1:p.Arg1520ValfsTer6