Canonical Allele Identifier: CA2839012646

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708019del , CM000686.2:g.19708019del	GRCh38
NC_000024.9:g.21869905del , CM000686.1:g.21869905del	GRCh37
NC_000024.8:g.20329293del	NCBI36
NG_032920.1:g.41922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3315del MANE Select	ENSP00000322408.4:p.Trp1105Ter
ENST00000317961.8:c.3315del	ENSP00000322408.4:p.Trp1105Ter
ENST00000382806.6:c.3144del	ENSP00000372256.2:p.Trp1048Ter
ENST00000415360.1:c.231del	ENSP00000389433.1:p.Trp77Ter
ENST00000440077.5:c.3192del	ENSP00000398543.1:p.Trp1064Ter
ENST00000469599.6:n.1913del
ENST00000492117.1:n.3207del
ENST00000541639.5:c.3408del	ENSP00000444293.1:p.Trp1136Ter
NM_001146705.1:c.3408del	NP_001140177.1:p.Trp1136Ter
NM_001146706.1:c.3144del	NP_001140178.1:p.Trp1048Ter
NM_004653.4:c.3315del	NP_004644.2:p.Trp1105Ter
XM_005262560.1:c.3180del	XP_005262617.1:p.Trp1060Ter
XM_005262561.1:c.3084del	XP_005262618.1:p.Trp1028Ter
XM_011531468.1:c.3237del	XP_011529770.1:p.Trp1079Ter
XR_244571.2:n.3603del
XR_430568.2:n.3937del
XM_005262560.3:c.3180del	XP_005262617.1:p.Trp1060Ter
XM_005262561.3:c.3084del	XP_005262618.1:p.Trp1028Ter
XM_011531468.3:c.3237del	XP_011529770.1:p.Trp1079Ter
XM_024452495.1:c.1305del	XP_024308263.1:p.Trp435Ter
XM_024452496.1:c.1071del	XP_024308264.1:p.Trp357Ter
XR_001756009.2:n.4053del
XR_001756010.2:n.4053del
XR_001756011.2:n.3918del
XR_001756012.2:n.4066del
XR_001756013.2:n.3384del
XR_002958832.1:n.3485del
XR_002958834.1:n.3709del
XR_002958835.1:n.3592del
XR_002958836.1:n.4275del
XR_002958837.1:n.4082del
XR_244571.4:n.3602del
XR_430568.4:n.3936del
NM_001146706.2:c.3144del	NP_001140178.1:p.Trp1048Ter
NM_004653.5:c.3315del MANE Select	NP_004644.2:p.Trp1105Ter
NM_001146705.2:c.3408del	NP_001140177.1:p.Trp1136Ter