Canonical Allele Identifier: CA2579752051
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706908del , CM000686.2:g.19706908del GRCh38
NC_000024.9:g.21868794del , CM000686.1:g.21868794del GRCh37
NC_000024.8:g.20328182del NCBI36
NG_032920.1:g.43033del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4000-44del MANE Select ENSP00000322408.4:n.4000-44del
ENST00000317961.8:c.4000-44del ENSP00000322408.4:n.4000-44del
ENST00000382806.6:c.3829-44del ENSP00000372256.2:n.3829-44del
ENST00000440077.5:c.3877-44del ENSP00000398543.1:n.3877-44del
ENST00000469599.6:n.2598-44del
ENST00000492117.1:n.3892-44del
ENST00000541639.5:c.4093-44del ENSP00000444293.1:n.4093-44del
NM_001146705.1:c.4093-44del NP_001140177.1:n.4093-44del
NM_001146706.1:c.3829-44del NP_001140178.1:n.3829-44del
NM_004653.4:c.4000-44del NP_004644.2:n.4000-44del
XM_005262560.1:c.3865-44del XP_005262617.1:n.3865-44del
XM_005262561.1:c.3769-44del XP_005262618.1:n.3769-44del
XM_011531468.1:c.3922-44del XP_011529770.1:n.3922-44del
XR_244571.2:n.4288-44del
XR_430568.2:n.4622-44del
XM_005262560.3:c.3865-44del XP_005262617.1:n.3865-44del
XM_005262561.3:c.3769-44del XP_005262618.1:n.3769-44del
XM_011531468.3:c.3922-44del XP_011529770.1:n.3922-44del
XM_024452495.1:c.1990-44del XP_024308263.1:n.1990-44del
XM_024452496.1:c.1756-44del XP_024308264.1:n.1756-44del
XR_001756009.2:n.4738-44del
XR_001756010.2:n.4738-44del
XR_001756011.2:n.4603-44del
XR_001756012.2:n.4751-44del
XR_001756013.2:n.4069-44del
XR_002958832.1:n.4170-44del
XR_002958834.1:n.4394-44del
XR_002958835.1:n.4277-44del
XR_002958836.1:n.4960-44del
XR_002958837.1:n.4767-44del
XR_244571.4:n.4287-44del
XR_430568.4:n.4621-44del
NM_001146706.2:c.3829-44del NP_001140178.1:n.3829-44del
NM_004653.5:c.4000-44del MANE Select NP_004644.2:n.4000-44del
NM_001146705.2:c.4093-44del NP_001140177.1:n.4093-44del