Canonical Allele Identifier: CA2579752073

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707562del , CM000686.2:g.19707562del	GRCh38
NC_000024.9:g.21869448del , CM000686.1:g.21869448del	GRCh37
NC_000024.8:g.20328836del	NCBI36
NG_032920.1:g.42379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3585del MANE Select	ENSP00000322408.4:p.Trp1195CysfsTer26
ENST00000317961.8:c.3585del	ENSP00000322408.4:p.Trp1195CysfsTer26
ENST00000382806.6:c.3414del	ENSP00000372256.2:p.Trp1138CysfsTer26
ENST00000415360.1:c.501del	ENSP00000389433.1:p.Trp167CysfsTer26
ENST00000440077.5:c.3462del	ENSP00000398543.1:p.Trp1154CysfsTer26
ENST00000469599.6:n.2183del
ENST00000492117.1:n.3477del
ENST00000541639.5:c.3678del	ENSP00000444293.1:p.Trp1226CysfsTer26
NM_001146705.1:c.3678del	NP_001140177.1:p.Trp1226CysfsTer26
NM_001146706.1:c.3414del	NP_001140178.1:p.Trp1138CysfsTer26
NM_004653.4:c.3585del	NP_004644.2:p.Trp1195CysfsTer26
XM_005262560.1:c.3450del	XP_005262617.1:p.Trp1150CysfsTer26
XM_005262561.1:c.3354del	XP_005262618.1:p.Trp1118CysfsTer26
XM_011531468.1:c.3507del	XP_011529770.1:p.Trp1169CysfsTer26
XR_244571.2:n.3873del
XR_430568.2:n.4207del
XM_005262560.3:c.3450del	XP_005262617.1:p.Trp1150CysfsTer26
XM_005262561.3:c.3354del	XP_005262618.1:p.Trp1118CysfsTer26
XM_011531468.3:c.3507del	XP_011529770.1:p.Trp1169CysfsTer26
XM_024452495.1:c.1575del	XP_024308263.1:p.Trp525CysfsTer26
XM_024452496.1:c.1341del	XP_024308264.1:p.Trp447CysfsTer26
XR_001756009.2:n.4323del
XR_001756010.2:n.4323del
XR_001756011.2:n.4188del
XR_001756012.2:n.4336del
XR_001756013.2:n.3654del
XR_002958832.1:n.3755del
XR_002958834.1:n.3979del
XR_002958835.1:n.3862del
XR_002958836.1:n.4545del
XR_002958837.1:n.4352del
XR_244571.4:n.3872del
XR_430568.4:n.4206del
NM_001146706.2:c.3414del	NP_001140178.1:p.Trp1138CysfsTer26
NM_004653.5:c.3585del MANE Select	NP_004644.2:p.Trp1195CysfsTer26
NM_001146705.2:c.3678del	NP_001140177.1:p.Trp1226CysfsTer26