Canonical Allele Identifier: CA2766253136

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705914_19705917del , CM000686.2:g.19705914_19705917del	GRCh38
NC_000024.9:g.21867800_21867803del , CM000686.1:g.21867800_21867803del	GRCh37
NC_000024.8:g.20327188_20327191del	NCBI36
NG_032920.1:g.44023_44026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.*78_*81del MANE Select	ENSP00000322408.4:n.*78_*81del
ENST00000317961.8:c.*78_*81del	ENSP00000322408.4:n.*78_*81del
ENST00000382806.6:c.*78_*81del	ENSP00000372256.2:n.*78_*81del
ENST00000469599.6:n.3449_3452del
ENST00000492117.1:n.4743_4746del
ENST00000541639.5:c.*78_*81del	ENSP00000444293.1:n.*78_*81del
NM_001146705.1:c.*78_*81del	NP_001140177.1:n.*78_*81del
NM_001146706.1:c.*78_*81del	NP_001140178.1:n.*78_*81del
NM_004653.4:c.*78_*81del	NP_004644.2:n.*78_*81del
XM_005262560.1:c.*78_*81del	XP_005262617.1:n.*78_*81del
XM_005262561.1:c.*78_*81del	XP_005262618.1:n.*78_*81del
XM_011531468.1:c.*78_*81del	XP_011529770.1:n.*78_*81del
XR_430568.2:n.5473_5476del
XM_005262560.3:c.*78_*81del	XP_005262617.1:n.*78_*81del
XM_005262561.3:c.*78_*81del	XP_005262618.1:n.*78_*81del
XM_011531468.3:c.*78_*81del	XP_011529770.1:n.*78_*81del
XM_024452495.1:c.*78_*81del	XP_024308263.1:n.*78_*81del
XM_024452496.1:c.*78_*81del	XP_024308264.1:n.*78_*81del
XR_001756009.2:n.5436_5439del
XR_001756010.2:n.5404_5407del
XR_001756011.2:n.5301_5304del
XR_001756012.2:n.5449_5452del
XR_001756013.2:n.4767_4770del
XR_002958832.1:n.5021_5024del
XR_002958834.1:n.5092_5095del
XR_002958835.1:n.4975_4978del
XR_002958836.1:n.5626_5629del
XR_002958837.1:n.5433_5436del
XR_244571.4:n.4953_4956del
XR_430568.4:n.5472_5475del
NM_001146706.2:c.*78_*81del	NP_001140178.1:n.*78_*81del
NM_004653.5:c.*78_*81del MANE Select	NP_004644.2:n.*78_*81del
NM_001146705.2:c.*78_*81del	NP_001140177.1:n.*78_*81del