Canonical Allele Identifier: CA2766253098

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19707620_19707623del , CM000686.2:g.19707620_19707623del	GRCh38
NC_000024.9:g.21869506_21869509del , CM000686.1:g.21869506_21869509del	GRCh37
NC_000024.8:g.20328894_20328897del	NCBI36
NG_032920.1:g.42323_42326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.3529_3532del MANE Select	ENSP00000322408.4:p.Cys1177GlyfsTer?
ENST00000317961.8:c.3529_3532del	ENSP00000322408.4:p.Cys1177GlyfsTer?
ENST00000382806.6:c.3358_3361del	ENSP00000372256.2:p.Cys1120GlyfsTer?
ENST00000415360.1:c.445_448del	ENSP00000389433.1:p.Cys149GlyfsTer?
ENST00000440077.5:c.3406_3409del	ENSP00000398543.1:p.Cys1136GlyfsTer?
ENST00000469599.6:n.2127_2130del
ENST00000492117.1:n.3421_3424del
ENST00000541639.5:c.3622_3625del	ENSP00000444293.1:p.Cys1208GlyfsTer?
NM_001146705.1:c.3622_3625del	NP_001140177.1:p.Cys1208GlyfsTer?
NM_001146706.1:c.3358_3361del	NP_001140178.1:p.Cys1120GlyfsTer?
NM_004653.4:c.3529_3532del	NP_004644.2:p.Cys1177GlyfsTer?
XM_005262560.1:c.3394_3397del	XP_005262617.1:p.Cys1132GlyfsTer?
XM_005262561.1:c.3298_3301del	XP_005262618.1:p.Cys1100GlyfsTer?
XM_011531468.1:c.3451_3454del	XP_011529770.1:p.Cys1151GlyfsTer?
XR_244571.2:n.3817_3820del
XR_430568.2:n.4151_4154del
XM_005262560.3:c.3394_3397del	XP_005262617.1:p.Cys1132GlyfsTer?
XM_005262561.3:c.3298_3301del	XP_005262618.1:p.Cys1100GlyfsTer?
XM_011531468.3:c.3451_3454del	XP_011529770.1:p.Cys1151GlyfsTer?
XM_024452495.1:c.1519_1522del	XP_024308263.1:p.Cys507GlyfsTer?
XM_024452496.1:c.1285_1288del	XP_024308264.1:p.Cys429GlyfsTer?
XR_001756009.2:n.4267_4270del
XR_001756010.2:n.4267_4270del
XR_001756011.2:n.4132_4135del
XR_001756012.2:n.4280_4283del
XR_001756013.2:n.3598_3601del
XR_002958832.1:n.3699_3702del
XR_002958834.1:n.3923_3926del
XR_002958835.1:n.3806_3809del
XR_002958836.1:n.4489_4492del
XR_002958837.1:n.4296_4299del
XR_244571.4:n.3816_3819del
XR_430568.4:n.4150_4153del
NM_001146706.2:c.3358_3361del	NP_001140178.1:p.Cys1120GlyfsTer?
NM_004653.5:c.3529_3532del MANE Select	NP_004644.2:p.Cys1177GlyfsTer?
NM_001146705.2:c.3622_3625del	NP_001140177.1:p.Cys1208GlyfsTer?