Canonical Allele Identifier: CA337440741

Gene: KDM5D

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19726989_19726990del , CM000686.2:g.19726989_19726990del	GRCh38
NC_000024.9:g.21888875_21888876del , CM000686.1:g.21888875_21888876del	GRCh37
NC_000024.8:g.20348263_20348264del	NCBI36
NG_032920.1:g.22952_22953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.1371+4784_1371+4785del MANE Select	ENSP00000322408.4:n.1371+4784_1371+4785del
ENST00000317961.8:c.1371+4784_1371+4785del	ENSP00000322408.4:n.1371+4784_1371+4785del
ENST00000382806.6:c.1200+4784_1200+4785del	ENSP00000372256.2:n.1200+4784_1200+4785del
ENST00000440077.5:c.1248+4784_1248+4785del	ENSP00000398543.1:n.1248+4784_1248+4785del
ENST00000447300.1:c.1236+4784_1236+4785del	ENSP00000416377.1:n.1236+4784_1236+4785del
ENST00000541639.5:c.1372-3555_1372-3554del	ENSP00000444293.1:n.1372-3555_1372-3554del
NM_001146705.1:c.1372-3555_1372-3554del	NP_001140177.1:n.1372-3555_1372-3554del
NM_001146706.1:c.1200+4784_1200+4785del	NP_001140178.1:n.1200+4784_1200+4785del
NM_004653.4:c.1371+4784_1371+4785del	NP_004644.2:n.1371+4784_1371+4785del
XM_005262560.1:c.1236+4784_1236+4785del	XP_005262617.1:n.1236+4784_1236+4785del
XM_005262561.1:c.1371+4784_1371+4785del	XP_005262618.1:n.1371+4784_1371+4785del
XM_005262562.2:c.1371+4784_1371+4785del	XP_005262619.1:n.1371+4784_1371+4785del
XM_011531468.1:c.1371+4784_1371+4785del	XP_011529770.1:n.1371+4784_1371+4785del
XR_244571.2:n.1659+4784_1659+4785del
XR_430568.2:n.1659+4784_1659+4785del
XR_938609.1:n.1659+4784_1659+4785del
XR_938610.1:n.1659+4784_1659+4785del
XM_005262560.3:c.1236+4784_1236+4785del	XP_005262617.1:n.1236+4784_1236+4785del
XM_005262561.3:c.1371+4784_1371+4785del	XP_005262618.1:n.1371+4784_1371+4785del
XM_011531468.3:c.1371+4784_1371+4785del	XP_011529770.1:n.1371+4784_1371+4785del
XM_024452495.1:c.-747+4784_-747+4785del	XP_024308263.1:n.-747+4784_-747+4785del
XR_001756009.2:n.1658+4784_1658+4785del
XR_001756010.2:n.1658+4784_1658+4785del
XR_001756011.2:n.1523+4784_1523+4785del
XR_001756012.2:n.1658+4784_1658+4785del
XR_001756013.2:n.1658+4784_1658+4785del
XR_002958832.1:n.1658+4784_1658+4785del
XR_002958833.1:n.1658+4784_1658+4785del
XR_002958834.1:n.1658+4784_1658+4785del
XR_002958835.1:n.1658+4784_1658+4785del
XR_002958836.1:n.1658+4784_1658+4785del
XR_002958837.1:n.1658+4784_1658+4785del
XR_244571.4:n.1658+4784_1658+4785del
XR_430568.4:n.1658+4784_1658+4785del
NM_001146706.2:c.1200+4784_1200+4785del	NP_001140178.1:n.1200+4784_1200+4785del
NM_004653.5:c.1371+4784_1371+4785del MANE Select	NP_004644.2:n.1371+4784_1371+4785del
NM_001146705.2:c.1372-3555_1372-3554del	NP_001140177.1:n.1372-3555_1372-3554del