Canonical Allele Identifier: CA2546606400

Gene: KDM5D

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19706716del , CM000686.2:g.19706716del	GRCh38
NC_000024.9:g.21868602del , CM000686.1:g.21868602del	GRCh37
NC_000024.8:g.20327990del	NCBI36
NG_032920.1:g.43225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317961.9:c.4070-75del MANE Select	ENSP00000322408.4:n.4070-75del
ENST00000317961.8:c.4070-75del	ENSP00000322408.4:n.4070-75del
ENST00000382806.6:c.3899-75del	ENSP00000372256.2:n.3899-75del
ENST00000440077.5:c.3947-75del	ENSP00000398543.1:n.3947-75del
ENST00000469599.6:n.2746del
ENST00000492117.1:n.4040del
ENST00000541639.5:c.4163-75del	ENSP00000444293.1:n.4163-75del
NM_001146705.1:c.4163-75del	NP_001140177.1:n.4163-75del
NM_001146706.1:c.3899-75del	NP_001140178.1:n.3899-75del
NM_004653.4:c.4070-75del	NP_004644.2:n.4070-75del
XM_005262560.1:c.3935-75del	XP_005262617.1:n.3935-75del
XM_005262561.1:c.3839-75del	XP_005262618.1:n.3839-75del
XM_011531468.1:c.3992-75del	XP_011529770.1:n.3992-75del
XR_244571.2:n.4357+79del
XR_430568.2:n.4770del
XM_005262560.3:c.3935-75del	XP_005262617.1:n.3935-75del
XM_005262561.3:c.3839-75del	XP_005262618.1:n.3839-75del
XM_011531468.3:c.3992-75del	XP_011529770.1:n.3992-75del
XM_024452495.1:c.2060-75del	XP_024308263.1:n.2060-75del
XM_024452496.1:c.1826-75del	XP_024308264.1:n.1826-75del
XR_001756009.2:n.4808-75del
XR_001756010.2:n.4807+79del
XR_001756011.2:n.4673-75del
XR_001756012.2:n.4821-75del
XR_001756013.2:n.4139-75del
XR_002958832.1:n.4318del
XR_002958834.1:n.4464-75del
XR_002958835.1:n.4347-75del
XR_002958836.1:n.5029+79del
XR_002958837.1:n.4836+79del
XR_244571.4:n.4356+79del
XR_430568.4:n.4769del
NM_001146706.2:c.3899-75del	NP_001140178.1:n.3899-75del
NM_004653.5:c.4070-75del MANE Select	NP_004644.2:n.4070-75del
NM_001146705.2:c.4163-75del	NP_001140177.1:n.4163-75del