Canonical Allele Identifier: CA337440988
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs2032675
gnomAD v3: Y-19732285-CAT-C
gnomAD v4: Y-19732285-CAT-C
MyVariant Identifiers: chrY:g.21894172_21894173del (hg19) chrY:g.19732286_19732287del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19732288_19732289del , CM000686.2:g.19732288_19732289del GRCh38
NC_000024.9:g.21894174_21894175del , CM000686.1:g.21894174_21894175del GRCh37
NC_000024.8:g.20353562_20353563del NCBI36
NG_032920.1:g.17653_17654del

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.1093-122_1093-121del MANE Select ENSP00000322408.4:n.1093-122_1093-121del
ENST00000317961.8:c.1093-122_1093-121del ENSP00000322408.4:n.1093-122_1093-121del
ENST00000382806.6:c.922-122_922-121del ENSP00000372256.2:n.922-122_922-121del
ENST00000440077.5:c.970-122_970-121del ENSP00000398543.1:n.970-122_970-121del
ENST00000447300.1:c.958-122_958-121del ENSP00000416377.1:n.958-122_958-121del
ENST00000541639.5:c.1093-122_1093-121del ENSP00000444293.1:n.1093-122_1093-121del
NM_001146705.1:c.1093-122_1093-121del NP_001140177.1:n.1093-122_1093-121del
NM_001146706.1:c.922-122_922-121del NP_001140178.1:n.922-122_922-121del
NM_004653.4:c.1093-122_1093-121del NP_004644.2:n.1093-122_1093-121del
XM_005262560.1:c.958-122_958-121del XP_005262617.1:n.958-122_958-121del
XM_005262561.1:c.1093-122_1093-121del XP_005262618.1:n.1093-122_1093-121del
XM_005262562.2:c.1093-122_1093-121del XP_005262619.1:n.1093-122_1093-121del
XM_011531468.1:c.1093-122_1093-121del XP_011529770.1:n.1093-122_1093-121del
XR_244571.2:n.1381-122_1381-121del
XR_430568.2:n.1381-122_1381-121del
XR_938609.1:n.1381-122_1381-121del
XR_938610.1:n.1381-122_1381-121del
XM_005262560.3:c.958-122_958-121del XP_005262617.1:n.958-122_958-121del
XM_005262561.3:c.1093-122_1093-121del XP_005262618.1:n.1093-122_1093-121del
XM_011531468.3:c.1093-122_1093-121del XP_011529770.1:n.1093-122_1093-121del
XM_024452495.1:c.-1025-122_-1025-121del XP_024308263.1:n.-1025-122_-1025-121del
XR_001756009.2:n.1380-122_1380-121del
XR_001756010.2:n.1380-122_1380-121del
XR_001756011.2:n.1245-122_1245-121del
XR_001756012.2:n.1380-122_1380-121del
XR_001756013.2:n.1380-122_1380-121del
XR_002958832.1:n.1380-122_1380-121del
XR_002958833.1:n.1380-122_1380-121del
XR_002958834.1:n.1380-122_1380-121del
XR_002958835.1:n.1380-122_1380-121del
XR_002958836.1:n.1380-122_1380-121del
XR_002958837.1:n.1380-122_1380-121del
XR_244571.4:n.1380-122_1380-121del
XR_430568.4:n.1380-122_1380-121del
NM_001146706.2:c.922-122_922-121del NP_001140178.1:n.922-122_922-121del
NM_004653.5:c.1093-122_1093-121del MANE Select NP_004644.2:n.1093-122_1093-121del
NM_001146705.2:c.1093-122_1093-121del NP_001140177.1:n.1093-122_1093-121del
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