Canonical Allele Identifier: CA2550665015

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708063del , CM000686.2:g.19708063del	GRCh38
NC_000024.9:g.21869949del , CM000686.1:g.21869949del	GRCh37
NC_000024.8:g.20329337del	NCBI36
NG_032920.1:g.41879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3272del MANE Select	ENSP00000322408.4:p.Pro1091ArgfsTer?
ENST00000317961.8:c.3272del	ENSP00000322408.4:p.Pro1091ArgfsTer?
ENST00000382806.6:c.3101del	ENSP00000372256.2:p.Pro1034ArgfsTer?
ENST00000415360.1:c.188del	ENSP00000389433.1:p.Pro63ArgfsTer?
ENST00000440077.5:c.3149del	ENSP00000398543.1:p.Pro1050ArgfsTer?
ENST00000469599.6:n.1870del
ENST00000492117.1:n.3164del
ENST00000541639.5:c.3365del	ENSP00000444293.1:p.Pro1122ArgfsTer?
NM_001146705.1:c.3365del	NP_001140177.1:p.Pro1122ArgfsTer?
NM_001146706.1:c.3101del	NP_001140178.1:p.Pro1034ArgfsTer?
NM_004653.4:c.3272del	NP_004644.2:p.Pro1091ArgfsTer?
XM_005262560.1:c.3137del	XP_005262617.1:p.Pro1046ArgfsTer?
XM_005262561.1:c.3041del	XP_005262618.1:p.Pro1014ArgfsTer?
XM_011531468.1:c.3194del	XP_011529770.1:p.Pro1065ArgfsTer?
XR_244571.2:n.3560del
XR_430568.2:n.3894del
XM_005262560.3:c.3137del	XP_005262617.1:p.Pro1046ArgfsTer?
XM_005262561.3:c.3041del	XP_005262618.1:p.Pro1014ArgfsTer?
XM_011531468.3:c.3194del	XP_011529770.1:p.Pro1065ArgfsTer?
XM_024452495.1:c.1262del	XP_024308263.1:p.Pro421ArgfsTer?
XM_024452496.1:c.1028del	XP_024308264.1:p.Pro343ArgfsTer?
XR_001756009.2:n.4010del
XR_001756010.2:n.4010del
XR_001756011.2:n.3875del
XR_001756012.2:n.4023del
XR_001756013.2:n.3341del
XR_002958832.1:n.3442del
XR_002958834.1:n.3666del
XR_002958835.1:n.3549del
XR_002958836.1:n.4232del
XR_002958837.1:n.4039del
XR_244571.4:n.3559del
XR_430568.4:n.3893del
NM_001146706.2:c.3101del	NP_001140178.1:p.Pro1034ArgfsTer?
NM_004653.5:c.3272del MANE Select	NP_004644.2:p.Pro1091ArgfsTer?
NM_001146705.2:c.3365del	NP_001140177.1:p.Pro1122ArgfsTer?