Canonical Allele Identifier: CA231385761

Gene: KDM5A

Linked Data

• dbSNP Id: rs894024764
• gnomAD v3: 12-312167-GTTT-G
• gnomAD v4: 12-312167-GTTT-G
• MyVariant Identifiers: chr12:g.421334_421336del (hg19) ; chr12:g.312168_312170del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.312170_312172del , CM000674.2:g.312170_312172del	GRCh38
NC_000012.11:g.421336_421338del , CM000674.1:g.421336_421338del	GRCh37
NC_000012.10:g.291597_291599del	NCBI36
NG_046993.1:g.82286_82288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399788.7:c.3036+886_3036+888del MANE Select	ENSP00000382688.2:n.3036+886_3036+888del
ENST00000382815.8:c.3036+886_3036+888del	ENSP00000372265.5:n.3036+886_3036+888del
ENST00000399788.6:c.3036+886_3036+888del	ENSP00000382688.2:n.3036+886_3036+888del
ENST00000544760.1:c.1893+886_1893+888del	ENSP00000440622.1:n.1893+886_1893+888del
NM_001042603.2:c.3036+886_3036+888del	NP_001036068.1:n.3036+886_3036+888del
NM_001042603.3:c.3036+886_3036+888del MANE Select	NP_001036068.1:n.3036+886_3036+888del