Canonical Allele Identifier: CA2766252874
Gene: KDM5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19706721_19706722insT , CM000686.2:g.19706721_19706722insT GRCh38
NC_000024.9:g.21868607_21868608insT , CM000686.1:g.21868607_21868608insT GRCh37
NC_000024.8:g.20327995_20327996insT NCBI36
NG_032920.1:g.43218_43219insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.4069+72_4069+73insA MANE Select ENSP00000322408.4:n.4069+72_4069+73insA
ENST00000317961.8:c.4069+72_4069+73insA ENSP00000322408.4:n.4069+72_4069+73insA
ENST00000382806.6:c.3898+72_3898+73insA ENSP00000372256.2:n.3898+72_3898+73insA
ENST00000440077.5:c.3946+72_3946+73insA ENSP00000398543.1:n.3946+72_3946+73insA
ENST00000469599.6:n.2739_2740insA
ENST00000492117.1:n.4033_4034insA
ENST00000541639.5:c.4162+72_4162+73insA ENSP00000444293.1:n.4162+72_4162+73insA
NM_001146705.1:c.4162+72_4162+73insA NP_001140177.1:n.4162+72_4162+73insA
NM_001146706.1:c.3898+72_3898+73insA NP_001140178.1:n.3898+72_3898+73insA
NM_004653.4:c.4069+72_4069+73insA NP_004644.2:n.4069+72_4069+73insA
XM_005262560.1:c.3934+72_3934+73insA XP_005262617.1:n.3934+72_3934+73insA
XM_005262561.1:c.3838+72_3838+73insA XP_005262618.1:n.3838+72_3838+73insA
XM_011531468.1:c.3991+72_3991+73insA XP_011529770.1:n.3991+72_3991+73insA
XR_244571.2:n.4357+72_4357+73insA
XR_430568.2:n.4763_4764insA
XM_005262560.3:c.3934+72_3934+73insA XP_005262617.1:n.3934+72_3934+73insA
XM_005262561.3:c.3838+72_3838+73insA XP_005262618.1:n.3838+72_3838+73insA
XM_011531468.3:c.3991+72_3991+73insA XP_011529770.1:n.3991+72_3991+73insA
XM_024452495.1:c.2059+72_2059+73insA XP_024308263.1:n.2059+72_2059+73insA
XM_024452496.1:c.1825+72_1825+73insA XP_024308264.1:n.1825+72_1825+73insA
XR_001756009.2:n.4807+72_4807+73insA
XR_001756010.2:n.4807+72_4807+73insA
XR_001756011.2:n.4672+72_4672+73insA
XR_001756012.2:n.4820+72_4820+73insA
XR_001756013.2:n.4138+72_4138+73insA
XR_002958832.1:n.4311_4312insA
XR_002958834.1:n.4463+72_4463+73insA
XR_002958835.1:n.4346+72_4346+73insA
XR_002958836.1:n.5029+72_5029+73insA
XR_002958837.1:n.4836+72_4836+73insA
XR_244571.4:n.4356+72_4356+73insA
XR_430568.4:n.4762_4763insA
NM_001146706.2:c.3898+72_3898+73insA NP_001140178.1:n.3898+72_3898+73insA
NM_004653.5:c.4069+72_4069+73insA MANE Select NP_004644.2:n.4069+72_4069+73insA
NM_001146705.2:c.4162+72_4162+73insA NP_001140177.1:n.4162+72_4162+73insA