Canonical Allele Identifier: CA2470920636

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19732080_19732081delinsGA , CM000686.2:g.19732080_19732081delinsGA	GRCh38
NC_000024.9:g.21893966_21893967delinsGA , CM000686.1:g.21893966_21893967delinsGA	GRCh37
NC_000024.8:g.20353354_20353355delinsGA	NCBI36
NG_032920.1:g.17859_17860delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.1177_1178delinsTC MANE Select	ENSP00000322408.4:p.Ser393=
ENST00000317961.8:c.1177_1178delinsTC	ENSP00000322408.4:p.Ser393=
ENST00000382806.6:c.1006_1007delinsTC	ENSP00000372256.2:p.Ser336=
ENST00000440077.5:c.1054_1055delinsTC	ENSP00000398543.1:p.Ser352=
ENST00000447300.1:c.1042_1043delinsTC	ENSP00000416377.1:p.Ser348=
ENST00000541639.5:c.1177_1178delinsTC	ENSP00000444293.1:p.Ser393=
NM_001146705.1:c.1177_1178delinsTC	NP_001140177.1:p.Ser393=
NM_001146706.1:c.1006_1007delinsTC	NP_001140178.1:p.Ser336=
NM_004653.4:c.1177_1178delinsTC	NP_004644.2:p.Ser393=
XM_005262560.1:c.1042_1043delinsTC	XP_005262617.1:p.Ser348=
XM_005262561.1:c.1177_1178delinsTC	XP_005262618.1:p.Ser393=
XM_005262562.2:c.1177_1178delinsTC	XP_005262619.1:p.Ser393=
XM_011531468.1:c.1177_1178delinsTC	XP_011529770.1:p.Ser393=
XR_244571.2:n.1465_1466delinsTC
XR_430568.2:n.1465_1466delinsTC
XR_938609.1:n.1465_1466delinsTC
XR_938610.1:n.1465_1466delinsTC
XM_005262560.3:c.1042_1043delinsTC	XP_005262617.1:p.Ser348=
XM_005262561.3:c.1177_1178delinsTC	XP_005262618.1:p.Ser393=
XM_011531468.3:c.1177_1178delinsTC	XP_011529770.1:p.Ser393=
XM_024452495.1:c.-941_-940delinsTC	XP_024308263.1:n.-941_-940delinsTC
XR_001756009.2:n.1464_1465delinsTC
XR_001756010.2:n.1464_1465delinsTC
XR_001756011.2:n.1329_1330delinsTC
XR_001756012.2:n.1464_1465delinsTC
XR_001756013.2:n.1464_1465delinsTC
XR_002958832.1:n.1464_1465delinsTC
XR_002958833.1:n.1464_1465delinsTC
XR_002958834.1:n.1464_1465delinsTC
XR_002958835.1:n.1464_1465delinsTC
XR_002958836.1:n.1464_1465delinsTC
XR_002958837.1:n.1464_1465delinsTC
XR_244571.4:n.1464_1465delinsTC
XR_430568.4:n.1464_1465delinsTC
NM_001146706.2:c.1006_1007delinsTC	NP_001140178.1:p.Ser336=
NM_004653.5:c.1177_1178delinsTC MANE Select	NP_004644.2:p.Ser393=
NM_001146705.2:c.1177_1178delinsTC	NP_001140177.1:p.Ser393=