Canonical Allele Identifier: CA2579752091

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19708085_19708088del , CM000686.2:g.19708085_19708088del	GRCh38
NC_000024.9:g.21869971_21869974del , CM000686.1:g.21869971_21869974del	GRCh37
NC_000024.8:g.20329359_20329362del	NCBI36
NG_032920.1:g.41862_41865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3262-7_3262-4del MANE Select	ENSP00000322408.4:n.3262-7_3262-4del
ENST00000317961.8:c.3262-7_3262-4del	ENSP00000322408.4:n.3262-7_3262-4del
ENST00000382806.6:c.3091-7_3091-4del	ENSP00000372256.2:n.3091-7_3091-4del
ENST00000415360.1:c.178-7_178-4del	ENSP00000389433.1:n.178-7_178-4del
ENST00000440077.5:c.3139-7_3139-4del	ENSP00000398543.1:n.3139-7_3139-4del
ENST00000469599.6:n.1860-7_1860-4del
ENST00000492117.1:n.3154-7_3154-4del
ENST00000541639.5:c.3355-7_3355-4del	ENSP00000444293.1:n.3355-7_3355-4del
NM_001146705.1:c.3355-7_3355-4del	NP_001140177.1:n.3355-7_3355-4del
NM_001146706.1:c.3091-7_3091-4del	NP_001140178.1:n.3091-7_3091-4del
NM_004653.4:c.3262-7_3262-4del	NP_004644.2:n.3262-7_3262-4del
XM_005262560.1:c.3127-7_3127-4del	XP_005262617.1:n.3127-7_3127-4del
XM_005262561.1:c.3031-7_3031-4del	XP_005262618.1:n.3031-7_3031-4del
XM_011531468.1:c.3184-7_3184-4del	XP_011529770.1:n.3184-7_3184-4del
XR_244571.2:n.3550-7_3550-4del
XR_430568.2:n.3884-7_3884-4del
XM_005262560.3:c.3127-7_3127-4del	XP_005262617.1:n.3127-7_3127-4del
XM_005262561.3:c.3031-7_3031-4del	XP_005262618.1:n.3031-7_3031-4del
XM_011531468.3:c.3184-7_3184-4del	XP_011529770.1:n.3184-7_3184-4del
XM_024452495.1:c.1252-7_1252-4del	XP_024308263.1:n.1252-7_1252-4del
XM_024452496.1:c.1018-7_1018-4del	XP_024308264.1:n.1018-7_1018-4del
XR_001756009.2:n.4000-7_4000-4del
XR_001756010.2:n.4000-7_4000-4del
XR_001756011.2:n.3865-7_3865-4del
XR_001756012.2:n.4013-7_4013-4del
XR_001756013.2:n.3331-7_3331-4del
XR_002958832.1:n.3432-7_3432-4del
XR_002958834.1:n.3656-7_3656-4del
XR_002958835.1:n.3539-7_3539-4del
XR_002958836.1:n.4222-7_4222-4del
XR_002958837.1:n.4029-7_4029-4del
XR_244571.4:n.3549-7_3549-4del
XR_430568.4:n.3883-7_3883-4del
NM_001146706.2:c.3091-7_3091-4del	NP_001140178.1:n.3091-7_3091-4del
NM_004653.5:c.3262-7_3262-4del MANE Select	NP_004644.2:n.3262-7_3262-4del
NM_001146705.2:c.3355-7_3355-4del	NP_001140177.1:n.3355-7_3355-4del