Canonical Allele Identifier: CA2579752018

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706127del , CM000686.2:g.19706127del	GRCh38
NC_000024.9:g.21868013del , CM000686.1:g.21868013del	GRCh37
NC_000024.8:g.20327401del	NCBI36
NG_032920.1:g.43814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4489del MANE Select	ENSP00000322408.4:p.Ser1497ProfsTer8
ENST00000317961.8:c.4489del	ENSP00000322408.4:p.Ser1497ProfsTer8
ENST00000382806.6:c.4318del	ENSP00000372256.2:p.Ser1440ProfsTer8
ENST00000440077.5:c.4366del	ENSP00000398543.1:p.Ser1456ProfsTer8
ENST00000469599.6:n.3240del
ENST00000492117.1:n.4534del
ENST00000541639.5:c.4582del	ENSP00000444293.1:p.Ser1528ProfsTer8
NM_001146705.1:c.4582del	NP_001140177.1:p.Ser1528ProfsTer8
NM_001146706.1:c.4318del	NP_001140178.1:p.Ser1440ProfsTer8
NM_004653.4:c.4489del	NP_004644.2:p.Ser1497ProfsTer8
XM_005262560.1:c.4354del	XP_005262617.1:p.Ser1452ProfsTer8
XM_005262561.1:c.4258del	XP_005262618.1:p.Ser1420ProfsTer8
XM_011531468.1:c.4411del	XP_011529770.1:p.Ser1471ProfsTer8
XR_430568.2:n.5264del
XM_005262560.3:c.4354del	XP_005262617.1:p.Ser1452ProfsTer8
XM_005262561.3:c.4258del	XP_005262618.1:p.Ser1420ProfsTer8
XM_011531468.3:c.4411del	XP_011529770.1:p.Ser1471ProfsTer8
XM_024452495.1:c.2479del	XP_024308263.1:p.Ser827ProfsTer8
XM_024452496.1:c.2245del	XP_024308264.1:p.Ser749ProfsTer8
XR_001756009.2:n.5227del
XR_001756010.2:n.5195del
XR_001756011.2:n.5092del
XR_001756012.2:n.5240del
XR_001756013.2:n.4558del
XR_002958832.1:n.4812del
XR_002958834.1:n.4883del
XR_002958835.1:n.4766del
XR_002958836.1:n.5417del
XR_002958837.1:n.5224del
XR_244571.4:n.4744del
XR_430568.4:n.5263del
NM_001146706.2:c.4318del	NP_001140178.1:p.Ser1440ProfsTer8
NM_004653.5:c.4489del MANE Select	NP_004644.2:p.Ser1497ProfsTer8
NM_001146705.2:c.4582del	NP_001140177.1:p.Ser1528ProfsTer8