Canonical Allele Identifier: CA2766253170
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19707973dup , CM000686.2:g.19707973dup GRCh38
NC_000024.9:g.21869859dup , CM000686.1:g.21869859dup GRCh37
NC_000024.8:g.20329247dup NCBI36
NG_032920.1:g.41970dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.3363dup MANE Select ENSP00000322408.4:p.Leu1122AlafsTer?
ENST00000317961.8:c.3363dup ENSP00000322408.4:p.Leu1122AlafsTer?
ENST00000382806.6:c.3192dup ENSP00000372256.2:p.Leu1065AlafsTer?
ENST00000415360.1:c.279dup ENSP00000389433.1:p.Leu94AlafsTer?
ENST00000440077.5:c.3240dup ENSP00000398543.1:p.Leu1081AlafsTer?
ENST00000469599.6:n.1961dup
ENST00000492117.1:n.3255dup
ENST00000541639.5:c.3456dup ENSP00000444293.1:p.Leu1153AlafsTer?
NM_001146705.1:c.3456dup NP_001140177.1:p.Leu1153AlafsTer?
NM_001146706.1:c.3192dup NP_001140178.1:p.Leu1065AlafsTer?
NM_004653.4:c.3363dup NP_004644.2:p.Leu1122AlafsTer?
XM_005262560.1:c.3228dup XP_005262617.1:p.Leu1077AlafsTer?
XM_005262561.1:c.3132dup XP_005262618.1:p.Leu1045AlafsTer?
XM_011531468.1:c.3285dup XP_011529770.1:p.Leu1096AlafsTer?
XR_244571.2:n.3651dup
XR_430568.2:n.3985dup
XM_005262560.3:c.3228dup XP_005262617.1:p.Leu1077AlafsTer?
XM_005262561.3:c.3132dup XP_005262618.1:p.Leu1045AlafsTer?
XM_011531468.3:c.3285dup XP_011529770.1:p.Leu1096AlafsTer?
XM_024452495.1:c.1353dup XP_024308263.1:p.Leu452AlafsTer?
XM_024452496.1:c.1119dup XP_024308264.1:p.Leu374AlafsTer?
XR_001756009.2:n.4101dup
XR_001756010.2:n.4101dup
XR_001756011.2:n.3966dup
XR_001756012.2:n.4114dup
XR_001756013.2:n.3432dup
XR_002958832.1:n.3533dup
XR_002958834.1:n.3757dup
XR_002958835.1:n.3640dup
XR_002958836.1:n.4323dup
XR_002958837.1:n.4130dup
XR_244571.4:n.3650dup
XR_430568.4:n.3984dup
NM_001146706.2:c.3192dup NP_001140178.1:p.Leu1065AlafsTer?
NM_004653.5:c.3363dup MANE Select NP_004644.2:p.Leu1122AlafsTer?
NM_001146705.2:c.3456dup NP_001140177.1:p.Leu1153AlafsTer?