Canonical Allele Identifier: CA2011450013

Gene: KDM5A

Linked Data

• dbSNP Id: rs1943596685

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.312267_312270del , CM000674.2:g.312267_312270del	GRCh38
NC_000012.11:g.421433_421436del , CM000674.1:g.421433_421436del	GRCh37
NC_000012.10:g.291694_291697del	NCBI36
NG_046993.1:g.82189_82192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399788.7:c.3036+789_3036+792del MANE Select	ENSP00000382688.2:n.3036+789_3036+792del
ENST00000382815.8:c.3036+789_3036+792del	ENSP00000372265.5:n.3036+789_3036+792del
ENST00000399788.6:c.3036+789_3036+792del	ENSP00000382688.2:n.3036+789_3036+792del
ENST00000544760.1:c.1893+789_1893+792del	ENSP00000440622.1:n.1893+789_1893+792del
NM_001042603.2:c.3036+789_3036+792del	NP_001036068.1:n.3036+789_3036+792del
NM_001042603.3:c.3036+789_3036+792del MANE Select	NP_001036068.1:n.3036+789_3036+792del