Canonical Allele Identifier: CA337440276
Gene: KDM5D HGNC NCBI

Linked Data

dbSNP Id: rs2032623

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19716186_19716187insT , CM000686.2:g.19716186_19716187insT GRCh38
NC_000024.9:g.21878072_21878073insT , CM000686.1:g.21878072_21878073insT GRCh37
NC_000024.8:g.20337460_20337461insT NCBI36
NG_032920.1:g.33753_33754insA

Transcript Alleles

HGVS Amino-acid change
ENST00000317961.9:c.2031+92_2031+93insA MANE Select ENSP00000322408.4:n.2031+92_2031+93insA
ENST00000317961.8:c.2031+92_2031+93insA ENSP00000322408.4:n.2031+92_2031+93insA
ENST00000382806.6:c.1860+92_1860+93insA ENSP00000372256.2:n.1860+92_1860+93insA
ENST00000440077.5:c.1908+92_1908+93insA ENSP00000398543.1:n.1908+92_1908+93insA
ENST00000469599.6:n.295+92_295+93insA
ENST00000478891.1:n.70+92_70+93insA
ENST00000492117.1:n.1817-76_1817-75insA
ENST00000541639.5:c.2124+92_2124+93insA ENSP00000444293.1:n.2124+92_2124+93insA
NM_001146705.1:c.2124+92_2124+93insA NP_001140177.1:n.2124+92_2124+93insA
NM_001146706.1:c.1860+92_1860+93insA NP_001140178.1:n.1860+92_1860+93insA
NM_004653.4:c.2031+92_2031+93insA NP_004644.2:n.2031+92_2031+93insA
XM_005262560.1:c.1896+92_1896+93insA XP_005262617.1:n.1896+92_1896+93insA
XM_005262561.1:c.2031+92_2031+93insA XP_005262618.1:n.2031+92_2031+93insA
XM_005262562.2:c.2031+92_2031+93insA XP_005262619.1:n.2031+92_2031+93insA
XM_011531468.1:c.2031+92_2031+93insA XP_011529770.1:n.2031+92_2031+93insA
XR_244571.2:n.2319+92_2319+93insA
XR_430568.2:n.2319+92_2319+93insA
XR_938609.1:n.2319+92_2319+93insA
XR_938610.1:n.2319+92_2319+93insA
XM_005262560.3:c.1896+92_1896+93insA XP_005262617.1:n.1896+92_1896+93insA
XM_005262561.3:c.2031+92_2031+93insA XP_005262618.1:n.2031+92_2031+93insA
XM_011531468.3:c.2031+92_2031+93insA XP_011529770.1:n.2031+92_2031+93insA
XM_024452495.1:c.-86-76_-86-75insA XP_024308263.1:n.-86-76_-86-75insA
XM_024452496.1:c.-226-76_-226-75insA XP_024308264.1:n.-226-76_-226-75insA
XR_001756009.2:n.2318+92_2318+93insA
XR_001756010.2:n.2318+92_2318+93insA
XR_001756011.2:n.2183+92_2183+93insA
XR_001756012.2:n.2319-76_2319-75insA
XR_001756013.2:n.2319-76_2319-75insA
XR_002958832.1:n.2318+92_2318+93insA
XR_002958833.1:n.2319-76_2319-75insA
XR_002958834.1:n.2319-76_2319-75insA
XR_002958835.1:n.2319-76_2319-75insA
XR_002958836.1:n.2319-76_2319-75insA
XR_002958837.1:n.2319-76_2319-75insA
XR_244571.4:n.2318+92_2318+93insA
XR_430568.4:n.2318+92_2318+93insA
NM_001146706.2:c.1860+92_1860+93insA NP_001140178.1:n.1860+92_1860+93insA
NM_004653.5:c.2031+92_2031+93insA MANE Select NP_004644.2:n.2031+92_2031+93insA
NM_001146705.2:c.2124+92_2124+93insA NP_001140177.1:n.2124+92_2124+93insA