Canonical Allele Identifier: CA2470918957

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707524_19707527delinsTGAG , CM000686.2:g.19707524_19707527delinsTGAG	GRCh38
NC_000024.9:g.21869410_21869413delinsTGAG , CM000686.1:g.21869410_21869413delinsTGAG	GRCh37
NC_000024.8:g.20328798_20328801delinsTGAG	NCBI36
NG_032920.1:g.42413_42416delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3619_3622delinsCTCA MANE Select	ENSP00000322408.4:p.Leu1207=
ENST00000317961.8:c.3619_3622delinsCTCA	ENSP00000322408.4:p.Leu1207=
ENST00000382806.6:c.3448_3451delinsCTCA	ENSP00000372256.2:p.Leu1150=
ENST00000415360.1:c.535_538delinsCTCA	ENSP00000389433.1:p.Leu179=
ENST00000440077.5:c.3496_3499delinsCTCA	ENSP00000398543.1:p.Leu1166=
ENST00000469599.6:n.2217_2220delinsCTCA
ENST00000492117.1:n.3511_3514delinsCTCA
ENST00000541639.5:c.3712_3715delinsCTCA	ENSP00000444293.1:p.Leu1238=
NM_001146705.1:c.3712_3715delinsCTCA	NP_001140177.1:p.Leu1238=
NM_001146706.1:c.3448_3451delinsCTCA	NP_001140178.1:p.Leu1150=
NM_004653.4:c.3619_3622delinsCTCA	NP_004644.2:p.Leu1207=
XM_005262560.1:c.3484_3487delinsCTCA	XP_005262617.1:p.Leu1162=
XM_005262561.1:c.3388_3391delinsCTCA	XP_005262618.1:p.Leu1130=
XM_011531468.1:c.3541_3544delinsCTCA	XP_011529770.1:p.Leu1181=
XR_244571.2:n.3907_3910delinsCTCA
XR_430568.2:n.4241_4244delinsCTCA
XM_005262560.3:c.3484_3487delinsCTCA	XP_005262617.1:p.Leu1162=
XM_005262561.3:c.3388_3391delinsCTCA	XP_005262618.1:p.Leu1130=
XM_011531468.3:c.3541_3544delinsCTCA	XP_011529770.1:p.Leu1181=
XM_024452495.1:c.1609_1612delinsCTCA	XP_024308263.1:p.Leu537=
XM_024452496.1:c.1375_1378delinsCTCA	XP_024308264.1:p.Leu459=
XR_001756009.2:n.4357_4360delinsCTCA
XR_001756010.2:n.4357_4360delinsCTCA
XR_001756011.2:n.4222_4225delinsCTCA
XR_001756012.2:n.4370_4373delinsCTCA
XR_001756013.2:n.3688_3691delinsCTCA
XR_002958832.1:n.3789_3792delinsCTCA
XR_002958834.1:n.4013_4016delinsCTCA
XR_002958835.1:n.3896_3899delinsCTCA
XR_002958836.1:n.4579_4582delinsCTCA
XR_002958837.1:n.4386_4389delinsCTCA
XR_244571.4:n.3906_3909delinsCTCA
XR_430568.4:n.4240_4243delinsCTCA
NM_001146706.2:c.3448_3451delinsCTCA	NP_001140178.1:p.Leu1150=
NM_004653.5:c.3619_3622delinsCTCA MANE Select	NP_004644.2:p.Leu1207=
NM_001146705.2:c.3712_3715delinsCTCA	NP_001140177.1:p.Leu1238=