Canonical Allele Identifier: CA2766252875

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706724_19706725insTGGCCATG , CM000686.2:g.19706724_19706725insTGGCCATG	GRCh38
NC_000024.9:g.21868610_21868611insTGGCCATG , CM000686.1:g.21868610_21868611insTGGCCATG	GRCh37
NC_000024.8:g.20327998_20327999insTGGCCATG	NCBI36
NG_032920.1:g.43215_43216insCATGGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4069+69_4069+70insCATGGCCA MANE Select	ENSP00000322408.4:n.4069+69_4069+70insCATGGCCA
ENST00000317961.8:c.4069+69_4069+70insCATGGCCA	ENSP00000322408.4:n.4069+69_4069+70insCATGGCCA
ENST00000382806.6:c.3898+69_3898+70insCATGGCCA	ENSP00000372256.2:n.3898+69_3898+70insCATGGCCA
ENST00000440077.5:c.3946+69_3946+70insCATGGCCA	ENSP00000398543.1:n.3946+69_3946+70insCATGGCCA
ENST00000469599.6:n.2736_2737insCATGGCCA
ENST00000492117.1:n.4030_4031insCATGGCCA
ENST00000541639.5:c.4162+69_4162+70insCATGGCCA	ENSP00000444293.1:n.4162+69_4162+70insCATGGCCA
NM_001146705.1:c.4162+69_4162+70insCATGGCCA	NP_001140177.1:n.4162+69_4162+70insCATGGCCA
NM_001146706.1:c.3898+69_3898+70insCATGGCCA	NP_001140178.1:n.3898+69_3898+70insCATGGCCA
NM_004653.4:c.4069+69_4069+70insCATGGCCA	NP_004644.2:n.4069+69_4069+70insCATGGCCA
XM_005262560.1:c.3934+69_3934+70insCATGGCCA	XP_005262617.1:n.3934+69_3934+70insCATGGCCA
XM_005262561.1:c.3838+69_3838+70insCATGGCCA	XP_005262618.1:n.3838+69_3838+70insCATGGCCA
XM_011531468.1:c.3991+69_3991+70insCATGGCCA	XP_011529770.1:n.3991+69_3991+70insCATGGCCA
XR_244571.2:n.4357+69_4357+70insCATGGCCA
XR_430568.2:n.4760_4761insCATGGCCA
XM_005262560.3:c.3934+69_3934+70insCATGGCCA	XP_005262617.1:n.3934+69_3934+70insCATGGCCA
XM_005262561.3:c.3838+69_3838+70insCATGGCCA	XP_005262618.1:n.3838+69_3838+70insCATGGCCA
XM_011531468.3:c.3991+69_3991+70insCATGGCCA	XP_011529770.1:n.3991+69_3991+70insCATGGCCA
XM_024452495.1:c.2059+69_2059+70insCATGGCCA	XP_024308263.1:n.2059+69_2059+70insCATGGCCA
XM_024452496.1:c.1825+69_1825+70insCATGGCCA	XP_024308264.1:n.1825+69_1825+70insCATGGCCA
XR_001756009.2:n.4807+69_4807+70insCATGGCCA
XR_001756010.2:n.4807+69_4807+70insCATGGCCA
XR_001756011.2:n.4672+69_4672+70insCATGGCCA
XR_001756012.2:n.4820+69_4820+70insCATGGCCA
XR_001756013.2:n.4138+69_4138+70insCATGGCCA
XR_002958832.1:n.4308_4309insCATGGCCA
XR_002958834.1:n.4463+69_4463+70insCATGGCCA
XR_002958835.1:n.4346+69_4346+70insCATGGCCA
XR_002958836.1:n.5029+69_5029+70insCATGGCCA
XR_002958837.1:n.4836+69_4836+70insCATGGCCA
XR_244571.4:n.4356+69_4356+70insCATGGCCA
XR_430568.4:n.4759_4760insCATGGCCA
NM_001146706.2:c.3898+69_3898+70insCATGGCCA	NP_001140178.1:n.3898+69_3898+70insCATGGCCA
NM_004653.5:c.4069+69_4069+70insCATGGCCA MANE Select	NP_004644.2:n.4069+69_4069+70insCATGGCCA
NM_001146705.2:c.4162+69_4162+70insCATGGCCA	NP_001140177.1:n.4162+69_4162+70insCATGGCCA