Canonical Allele Identifier: CA923788647

Gene: KDM5D

Linked Data

• dbSNP Id: rs2045223278
• gnomAD v3: Y-19705859-GGA-G
• gnomAD v4: Y-19705859-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705865_19705866del , CM000686.2:g.19705865_19705866del	GRCh38
NC_000024.9:g.21867751_21867752del , CM000686.1:g.21867751_21867752del	GRCh37
NC_000024.8:g.20327139_20327140del	NCBI36
NG_032920.1:g.44079_44080del

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.*134_*135del MANE Select	ENSP00000322408.4:n.*134_*135del
ENST00000317961.8:c.*134_*135del	ENSP00000322408.4:n.*134_*135del
ENST00000382806.6:c.*134_*135del	ENSP00000372256.2:n.*134_*135del
ENST00000469599.6:n.3505_3506del
ENST00000492117.1:n.4799_4800del
ENST00000541639.5:c.*134_*135del	ENSP00000444293.1:n.*134_*135del
NM_001146705.1:c.*134_*135del	NP_001140177.1:n.*134_*135del
NM_001146706.1:c.*134_*135del	NP_001140178.1:n.*134_*135del
NM_004653.4:c.*134_*135del	NP_004644.2:n.*134_*135del
XM_005262560.1:c.*134_*135del	XP_005262617.1:n.*134_*135del
XM_005262561.1:c.*134_*135del	XP_005262618.1:n.*134_*135del
XM_011531468.1:c.*134_*135del	XP_011529770.1:n.*134_*135del
XR_430568.2:n.5529_5530del
XM_005262560.3:c.*134_*135del	XP_005262617.1:n.*134_*135del
XM_005262561.3:c.*134_*135del	XP_005262618.1:n.*134_*135del
XM_011531468.3:c.*134_*135del	XP_011529770.1:n.*134_*135del
XM_024452495.1:c.*134_*135del	XP_024308263.1:n.*134_*135del
XM_024452496.1:c.*134_*135del	XP_024308264.1:n.*134_*135del
XR_001756009.2:n.5492_5493del
XR_001756010.2:n.5460_5461del
XR_001756011.2:n.5357_5358del
XR_001756012.2:n.5505_5506del
XR_001756013.2:n.4823_4824del
XR_002958832.1:n.5077_5078del
XR_002958834.1:n.5148_5149del
XR_002958835.1:n.5031_5032del
XR_002958836.1:n.5682_5683del
XR_002958837.1:n.5489_5490del
XR_244571.4:n.5009_5010del
XR_430568.4:n.5528_5529del
NM_001146706.2:c.*134_*135del	NP_001140178.1:n.*134_*135del
NM_004653.5:c.*134_*135del MANE Select	NP_004644.2:n.*134_*135del
NM_001146705.2:c.*134_*135del	NP_001140177.1:n.*134_*135del