Canonical Allele Identifier: CA2579752039

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706787del , CM000686.2:g.19706787del	GRCh38
NC_000024.9:g.21868673del , CM000686.1:g.21868673del	GRCh37
NC_000024.8:g.20328061del	NCBI36
NG_032920.1:g.43153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4069+7del MANE Select	ENSP00000322408.4:n.4069+7del
ENST00000317961.8:c.4069+7del	ENSP00000322408.4:n.4069+7del
ENST00000382806.6:c.3898+7del	ENSP00000372256.2:n.3898+7del
ENST00000440077.5:c.3946+7del	ENSP00000398543.1:n.3946+7del
ENST00000469599.6:n.2674del
ENST00000492117.1:n.3968del
ENST00000541639.5:c.4162+7del	ENSP00000444293.1:n.4162+7del
NM_001146705.1:c.4162+7del	NP_001140177.1:n.4162+7del
NM_001146706.1:c.3898+7del	NP_001140178.1:n.3898+7del
NM_004653.4:c.4069+7del	NP_004644.2:n.4069+7del
XM_005262560.1:c.3934+7del	XP_005262617.1:n.3934+7del
XM_005262561.1:c.3838+7del	XP_005262618.1:n.3838+7del
XM_011531468.1:c.3991+7del	XP_011529770.1:n.3991+7del
XR_244571.2:n.4357+7del
XR_430568.2:n.4698del
XM_005262560.3:c.3934+7del	XP_005262617.1:n.3934+7del
XM_005262561.3:c.3838+7del	XP_005262618.1:n.3838+7del
XM_011531468.3:c.3991+7del	XP_011529770.1:n.3991+7del
XM_024452495.1:c.2059+7del	XP_024308263.1:n.2059+7del
XM_024452496.1:c.1825+7del	XP_024308264.1:n.1825+7del
XR_001756009.2:n.4807+7del
XR_001756010.2:n.4807+7del
XR_001756011.2:n.4672+7del
XR_001756012.2:n.4820+7del
XR_001756013.2:n.4138+7del
XR_002958832.1:n.4246del
XR_002958834.1:n.4463+7del
XR_002958835.1:n.4346+7del
XR_002958836.1:n.5029+7del
XR_002958837.1:n.4836+7del
XR_244571.4:n.4356+7del
XR_430568.4:n.4697del
NM_001146706.2:c.3898+7del	NP_001140178.1:n.3898+7del
NM_004653.5:c.4069+7del MANE Select	NP_004644.2:n.4069+7del
NM_001146705.2:c.4162+7del	NP_001140177.1:n.4162+7del