Canonical Allele Identifier: CA2766253155

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706109del , CM000686.2:g.19706109del	GRCh38
NC_000024.9:g.21867995del , CM000686.1:g.21867995del	GRCh37
NC_000024.8:g.20327383del	NCBI36
NG_032920.1:g.43833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4508del MANE Select	ENSP00000322408.4:p.Phe1503SerfsTer2
ENST00000317961.8:c.4508del	ENSP00000322408.4:p.Phe1503SerfsTer2
ENST00000382806.6:c.4337del	ENSP00000372256.2:p.Phe1446SerfsTer2
ENST00000440077.5:c.4385del	ENSP00000398543.1:p.Phe1462SerfsTer2
ENST00000469599.6:n.3259del
ENST00000492117.1:n.4553del
ENST00000541639.5:c.4601del	ENSP00000444293.1:p.Phe1534SerfsTer2
NM_001146705.1:c.4601del	NP_001140177.1:p.Phe1534SerfsTer2
NM_001146706.1:c.4337del	NP_001140178.1:p.Phe1446SerfsTer2
NM_004653.4:c.4508del	NP_004644.2:p.Phe1503SerfsTer2
XM_005262560.1:c.4373del	XP_005262617.1:p.Phe1458SerfsTer2
XM_005262561.1:c.4277del	XP_005262618.1:p.Phe1426SerfsTer2
XM_011531468.1:c.4430del	XP_011529770.1:p.Phe1477SerfsTer2
XR_430568.2:n.5283del
XM_005262560.3:c.4373del	XP_005262617.1:p.Phe1458SerfsTer2
XM_005262561.3:c.4277del	XP_005262618.1:p.Phe1426SerfsTer2
XM_011531468.3:c.4430del	XP_011529770.1:p.Phe1477SerfsTer2
XM_024452495.1:c.2498del	XP_024308263.1:p.Phe833SerfsTer2
XM_024452496.1:c.2264del	XP_024308264.1:p.Phe755SerfsTer2
XR_001756009.2:n.5246del
XR_001756010.2:n.5214del
XR_001756011.2:n.5111del
XR_001756012.2:n.5259del
XR_001756013.2:n.4577del
XR_002958832.1:n.4831del
XR_002958834.1:n.4902del
XR_002958835.1:n.4785del
XR_002958836.1:n.5436del
XR_002958837.1:n.5243del
XR_244571.4:n.4763del
XR_430568.4:n.5282del
NM_001146706.2:c.4337del	NP_001140178.1:p.Phe1446SerfsTer2
NM_004653.5:c.4508del MANE Select	NP_004644.2:p.Phe1503SerfsTer2
NM_001146705.2:c.4601del	NP_001140177.1:p.Phe1534SerfsTer2