Canonical Allele Identifier: CA2766253103

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705861del , CM000686.2:g.19705861del	GRCh38
NC_000024.9:g.21867747del , CM000686.1:g.21867747del	GRCh37
NC_000024.8:g.20327135del	NCBI36
NG_032920.1:g.44079del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.*134del MANE Select	ENSP00000322408.4:n.*134del
ENST00000317961.8:c.*134del	ENSP00000322408.4:n.*134del
ENST00000382806.6:c.*134del	ENSP00000372256.2:n.*134del
ENST00000469599.6:n.3505del
ENST00000492117.1:n.4799del
ENST00000541639.5:c.*134del	ENSP00000444293.1:n.*134del
NM_001146705.1:c.*134del	NP_001140177.1:n.*134del
NM_001146706.1:c.*134del	NP_001140178.1:n.*134del
NM_004653.4:c.*134del	NP_004644.2:n.*134del
XM_005262560.1:c.*134del	XP_005262617.1:n.*134del
XM_005262561.1:c.*134del	XP_005262618.1:n.*134del
XM_011531468.1:c.*134del	XP_011529770.1:n.*134del
XR_430568.2:n.5529del
XM_005262560.3:c.*134del	XP_005262617.1:n.*134del
XM_005262561.3:c.*134del	XP_005262618.1:n.*134del
XM_011531468.3:c.*134del	XP_011529770.1:n.*134del
XM_024452495.1:c.*134del	XP_024308263.1:n.*134del
XM_024452496.1:c.*134del	XP_024308264.1:n.*134del
XR_001756009.2:n.5492del
XR_001756010.2:n.5460del
XR_001756011.2:n.5357del
XR_001756012.2:n.5505del
XR_001756013.2:n.4823del
XR_002958832.1:n.5077del
XR_002958834.1:n.5148del
XR_002958835.1:n.5031del
XR_002958836.1:n.5682del
XR_002958837.1:n.5489del
XR_244571.4:n.5009del
XR_430568.4:n.5528del
NM_001146706.2:c.*134del	NP_001140178.1:n.*134del
NM_004653.5:c.*134del MANE Select	NP_004644.2:n.*134del
NM_001146705.2:c.*134del	NP_001140177.1:n.*134del