Canonical Allele Identifier: CA687252085

Gene: KDM5A

Linked Data

• dbSNP Id: rs1239468174
• MyVariant Identifiers: chr12:g.421310_421314del (hg19) ; chr12:g.312144_312148del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.312144_312148del , CM000674.2:g.312144_312148del	GRCh38
NC_000012.11:g.421310_421314del , CM000674.1:g.421310_421314del	GRCh37
NC_000012.10:g.291571_291575del	NCBI36
NG_046993.1:g.82308_82312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399788.7:c.3036+908_3036+912del MANE Select	ENSP00000382688.2:n.3036+908_3036+912del
ENST00000382815.8:c.3036+908_3036+912del	ENSP00000372265.5:n.3036+908_3036+912del
ENST00000399788.6:c.3036+908_3036+912del	ENSP00000382688.2:n.3036+908_3036+912del
ENST00000544760.1:c.1893+908_1893+912del	ENSP00000440622.1:n.1893+908_1893+912del
NM_001042603.2:c.3036+908_3036+912del	NP_001036068.1:n.3036+908_3036+912del
NM_001042603.3:c.3036+908_3036+912del MANE Select	NP_001036068.1:n.3036+908_3036+912del