Canonical Allele Identifier: CA2516730790

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19711504_19711505insT , CM000686.2:g.19711504_19711505insT	GRCh38
NC_000024.9:g.21873390_21873391insT , CM000686.1:g.21873390_21873391insT	GRCh37
NC_000024.8:g.20332778_20332779insT	NCBI36
NG_032920.1:g.38435_38436insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.2487-1033_2487-1032insA MANE Select	ENSP00000322408.4:n.2487-1033_2487-1032insA
ENST00000317961.8:c.2487-1033_2487-1032insA	ENSP00000322408.4:n.2487-1033_2487-1032insA
ENST00000382806.6:c.2316-1033_2316-1032insA	ENSP00000372256.2:n.2316-1033_2316-1032insA
ENST00000440077.5:c.2364-1033_2364-1032insA	ENSP00000398543.1:n.2364-1033_2364-1032insA
ENST00000469599.6:n.634-1033_634-1032insA
ENST00000492117.1:n.2379-1033_2379-1032insA
ENST00000541639.5:c.2580-1033_2580-1032insA	ENSP00000444293.1:n.2580-1033_2580-1032insA
NM_001146705.1:c.2580-1033_2580-1032insA	NP_001140177.1:n.2580-1033_2580-1032insA
NM_001146706.1:c.2316-1033_2316-1032insA	NP_001140178.1:n.2316-1033_2316-1032insA
NM_004653.4:c.2487-1033_2487-1032insA	NP_004644.2:n.2487-1033_2487-1032insA
XM_005262560.1:c.2352-1033_2352-1032insA	XP_005262617.1:n.2352-1033_2352-1032insA
XM_005262561.1:c.2487-1033_2487-1032insA	XP_005262618.1:n.2487-1033_2487-1032insA
XM_005262562.2:c.2487-1033_2487-1032insA	XP_005262619.1:n.2487-1033_2487-1032insA
XM_011531468.1:c.2487-1033_2487-1032insA	XP_011529770.1:n.2487-1033_2487-1032insA
XR_244571.2:n.2775-1033_2775-1032insA
XR_430568.2:n.2658-1033_2658-1032insA
XR_938609.1:n.2627-1033_2627-1032insA
XR_938610.1:n.2627-1033_2627-1032insA
XM_005262560.3:c.2352-1033_2352-1032insA	XP_005262617.1:n.2352-1033_2352-1032insA
XM_005262561.3:c.2487-1033_2487-1032insA	XP_005262618.1:n.2487-1033_2487-1032insA
XM_011531468.3:c.2487-1033_2487-1032insA	XP_011529770.1:n.2487-1033_2487-1032insA
XM_024452495.1:c.477-1033_477-1032insA	XP_024308263.1:n.477-1033_477-1032insA
XM_024452496.1:c.243-1033_243-1032insA	XP_024308264.1:n.243-1033_243-1032insA
XR_001756009.2:n.2774-1033_2774-1032insA
XR_001756010.2:n.2774-1033_2774-1032insA
XR_001756011.2:n.2639-1033_2639-1032insA
XR_001756012.2:n.2787-1033_2787-1032insA
XR_001756013.2:n.2787-1033_2787-1032insA
XR_002958832.1:n.2657-1033_2657-1032insA
XR_002958833.1:n.2787-1033_2787-1032insA
XR_002958834.1:n.2881-1033_2881-1032insA
XR_002958835.1:n.2764-1033_2764-1032insA
XR_002958836.1:n.2881-1033_2881-1032insA
XR_002958837.1:n.2881-1033_2881-1032insA
XR_244571.4:n.2774-1033_2774-1032insA
XR_430568.4:n.2657-1033_2657-1032insA
NM_001146706.2:c.2316-1033_2316-1032insA	NP_001140178.1:n.2316-1033_2316-1032insA
NM_004653.5:c.2487-1033_2487-1032insA MANE Select	NP_004644.2:n.2487-1033_2487-1032insA
NM_001146705.2:c.2580-1033_2580-1032insA	NP_001140177.1:n.2580-1033_2580-1032insA