Canonical Allele Identifier: CA2766253007
Gene: KDM5D HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19704470_19704471insAGC , CM000686.2:g.19704470_19704471insAGC GRCh38
NC_000024.9:g.21866356_21866357insAGC , CM000686.1:g.21866356_21866357insAGC GRCh37
NC_000024.8:g.20325744_20325745insAGC NCBI36
NG_032920.1:g.45470_45471insCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000317961.9:c.*1525_*1526insCTG MANE Select ENSP00000322408.4:n.*1525_*1526insCTG
ENST00000469599.6:n.4896_4897insCTG
NM_001146706.2:c.*1525_*1526insCTG NP_001140178.1:n.*1525_*1526insCTG
NM_004653.5:c.*1525_*1526insCTG MANE Select NP_004644.2:n.*1525_*1526insCTG
NM_001146705.2:c.*1525_*1526insCTG NP_001140177.1:n.*1525_*1526insCTG
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