Canonical Allele Identifier: CA2011449938

Gene: KDM5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.312102_312103delinsCT , CM000674.2:g.312102_312103delinsCT	GRCh38
NC_000012.11:g.421268_421269delinsCT , CM000674.1:g.421268_421269delinsCT	GRCh37
NC_000012.10:g.291529_291530delinsCT	NCBI36
NG_046993.1:g.82353_82354delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399788.7:c.3036+953_3036+954delinsAG MANE Select	ENSP00000382688.2:n.3036+953_3036+954delinsAG
ENST00000382815.8:c.3036+953_3036+954delinsAG	ENSP00000372265.5:n.3036+953_3036+954delinsAG
ENST00000399788.6:c.3036+953_3036+954delinsAG	ENSP00000382688.2:n.3036+953_3036+954delinsAG
ENST00000544760.1:c.1893+953_1893+954delinsAG	ENSP00000440622.1:n.1893+953_1893+954delinsAG
NM_001042603.2:c.3036+953_3036+954delinsAG	NP_001036068.1:n.3036+953_3036+954delinsAG
NM_001042603.3:c.3036+953_3036+954delinsAG MANE Select	NP_001036068.1:n.3036+953_3036+954delinsAG