Canonical Allele Identifier: CA2470920342
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19727022_19727023delinsCA , CM000686.2:g.19727022_19727023delinsCA GRCh38
NC_000024.9:g.21888908_21888909delinsCA , CM000686.1:g.21888908_21888909delinsCA GRCh37
NC_000024.8:g.20348296_20348297delinsCA NCBI36
NG_032920.1:g.22917_22918delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.1371+4749_1371+4750delinsTG MANE Select ENSP00000322408.4:n.1371+4749_1371+4750de...
ENST00000317961.8:c.1371+4749_1371+4750delinsTG ENSP00000322408.4:n.1371+4749_1371+4750de...
ENST00000382806.6:c.1200+4749_1200+4750delinsTG ENSP00000372256.2:n.1200+4749_1200+4750de...
ENST00000440077.5:c.1248+4749_1248+4750delinsTG ENSP00000398543.1:n.1248+4749_1248+4750de...
ENST00000447300.1:c.1236+4749_1236+4750delinsTG ENSP00000416377.1:n.1236+4749_1236+4750de...
ENST00000541639.5:c.1372-3590_1372-3589delinsTG ENSP00000444293.1:n.1372-3590_1372-3589de...
NM_001146705.1:c.1372-3590_1372-3589delinsTG NP_001140177.1:n.1372-3590_1372-3589delin...
NM_001146706.1:c.1200+4749_1200+4750delinsTG NP_001140178.1:n.1200+4749_1200+4750delin...
NM_004653.4:c.1371+4749_1371+4750delinsTG NP_004644.2:n.1371+4749_1371+4750delinsTG...
XM_005262560.1:c.1236+4749_1236+4750delinsTG XP_005262617.1:n.1236+4749_1236+4750delin...
XM_005262561.1:c.1371+4749_1371+4750delinsTG XP_005262618.1:n.1371+4749_1371+4750delin...
XM_005262562.2:c.1371+4749_1371+4750delinsTG XP_005262619.1:n.1371+4749_1371+4750delin...
XM_011531468.1:c.1371+4749_1371+4750delinsTG XP_011529770.1:n.1371+4749_1371+4750delin...
XR_244571.2:n.1659+4749_1659+4750delinsTG
XR_430568.2:n.1659+4749_1659+4750delinsTG
XR_938609.1:n.1659+4749_1659+4750delinsTG
XR_938610.1:n.1659+4749_1659+4750delinsTG
XM_005262560.3:c.1236+4749_1236+4750delinsTG XP_005262617.1:n.1236+4749_1236+4750delin...
XM_005262561.3:c.1371+4749_1371+4750delinsTG XP_005262618.1:n.1371+4749_1371+4750delin...
XM_011531468.3:c.1371+4749_1371+4750delinsTG XP_011529770.1:n.1371+4749_1371+4750delin...
XM_024452495.1:c.-747+4749_-747+4750delinsTG XP_024308263.1:n.-747+4749_-747+4750delin...
XR_001756009.2:n.1658+4749_1658+4750delinsTG
XR_001756010.2:n.1658+4749_1658+4750delinsTG
XR_001756011.2:n.1523+4749_1523+4750delinsTG
XR_001756012.2:n.1658+4749_1658+4750delinsTG
XR_001756013.2:n.1658+4749_1658+4750delinsTG
XR_002958832.1:n.1658+4749_1658+4750delinsTG
XR_002958833.1:n.1658+4749_1658+4750delinsTG
XR_002958834.1:n.1658+4749_1658+4750delinsTG
XR_002958835.1:n.1658+4749_1658+4750delinsTG
XR_002958836.1:n.1658+4749_1658+4750delinsTG
XR_002958837.1:n.1658+4749_1658+4750delinsTG
XR_244571.4:n.1658+4749_1658+4750delinsTG
XR_430568.4:n.1658+4749_1658+4750delinsTG
NM_001146706.2:c.1200+4749_1200+4750delinsTG NP_001140178.1:n.1200+4749_1200+4750delin...
NM_004653.5:c.1371+4749_1371+4750delinsTG MANE Select NP_004644.2:n.1371+4749_1371+4750delinsTG...
NM_001146705.2:c.1372-3590_1372-3589delinsTG NP_001140177.1:n.1372-3590_1372-3589delin...