Canonical Allele Identifier: CA687252138

Gene: KDM5A

Linked Data

• dbSNP Id: rs1482091469
• gnomAD v3: 12-312230-C-CAG
• gnomAD v4: 12-312230-C-CAG
• MyVariant Identifiers: chr12:g.421396_421397insAG (hg19) ; chr12:g.312230_312231insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.312232_312233dup , CM000674.2:g.312232_312233dup	GRCh38
NC_000012.11:g.421398_421399dup , CM000674.1:g.421398_421399dup	GRCh37
NC_000012.10:g.291659_291660dup	NCBI36
NG_046993.1:g.82224_82225dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399788.7:c.3036+824_3036+825dup MANE Select	ENSP00000382688.2:n.3036+824_3036+825dup
ENST00000382815.8:c.3036+824_3036+825dup	ENSP00000372265.5:n.3036+824_3036+825dup
ENST00000399788.6:c.3036+824_3036+825dup	ENSP00000382688.2:n.3036+824_3036+825dup
ENST00000544760.1:c.1893+824_1893+825dup	ENSP00000440622.1:n.1893+824_1893+825dup
NM_001042603.2:c.3036+824_3036+825dup	NP_001036068.1:n.3036+824_3036+825dup
NM_001042603.3:c.3036+824_3036+825dup MANE Select	NP_001036068.1:n.3036+824_3036+825dup