Canonical Allele Identifier: CA2011449957

Gene: KDM5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.312148_312150delinsCTG , CM000674.2:g.312148_312150delinsCTG	GRCh38
NC_000012.11:g.421314_421316delinsCTG , CM000674.1:g.421314_421316delinsCTG	GRCh37
NC_000012.10:g.291575_291577delinsCTG	NCBI36
NG_046993.1:g.82306_82308delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000399788.7:c.3036+906_3036+908delinsCAG MANE Select	ENSP00000382688.2:n.3036+906_3036+908delinsCAG
ENST00000382815.8:c.3036+906_3036+908delinsCAG	ENSP00000372265.5:n.3036+906_3036+908delinsCAG
ENST00000399788.6:c.3036+906_3036+908delinsCAG	ENSP00000382688.2:n.3036+906_3036+908delinsCAG
ENST00000544760.1:c.1893+906_1893+908delinsCAG	ENSP00000440622.1:n.1893+906_1893+908delinsCAG
NM_001042603.2:c.3036+906_3036+908delinsCAG	NP_001036068.1:n.3036+906_3036+908delinsCAG
NM_001042603.3:c.3036+906_3036+908delinsCAG MANE Select	NP_001036068.1:n.3036+906_3036+908delinsCAG