Canonical Allele Identifier: CA2011449958

Gene: KDM5A

Linked Data

• dbSNP Id: rs1943595235

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.312150_312151del , CM000674.2:g.312150_312151del	GRCh38
NC_000012.11:g.421316_421317del , CM000674.1:g.421316_421317del	GRCh37
NC_000012.10:g.291577_291578del	NCBI36
NG_046993.1:g.82306_82307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399788.7:c.3036+906_3036+907del MANE Select	ENSP00000382688.2:n.3036+906_3036+907del
ENST00000382815.8:c.3036+906_3036+907del	ENSP00000372265.5:n.3036+906_3036+907del
ENST00000399788.6:c.3036+906_3036+907del	ENSP00000382688.2:n.3036+906_3036+907del
ENST00000544760.1:c.1893+906_1893+907del	ENSP00000440622.1:n.1893+906_1893+907del
NM_001042603.2:c.3036+906_3036+907del	NP_001036068.1:n.3036+906_3036+907del
NM_001042603.3:c.3036+906_3036+907del MANE Select	NP_001036068.1:n.3036+906_3036+907del