Canonical Allele Identifier: CA2011449954
Gene: KDM5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.312143_312148delinsTAACAC , CM000674.2:g.312143_312148delinsTAACAC GRCh38
NC_000012.11:g.421309_421314delinsTAACAC , CM000674.1:g.421309_421314delinsTAACAC GRCh37
NC_000012.10:g.291570_291575delinsTAACAC NCBI36
NG_046993.1:g.82308_82313delinsGTGTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000399788.7:c.3036+908_3036+913delinsGTGTTA MANE Select ENSP00000382688.2:n.3036+908_3036+913delinsGTGTTA
ENST00000382815.8:c.3036+908_3036+913delinsGTGTTA ENSP00000372265.5:n.3036+908_3036+913delinsGTGTTA
ENST00000399788.6:c.3036+908_3036+913delinsGTGTTA ENSP00000382688.2:n.3036+908_3036+913delinsGTGTTA
ENST00000544760.1:c.1893+908_1893+913delinsGTGTTA ENSP00000440622.1:n.1893+908_1893+913delinsGTGTTA
NM_001042603.2:c.3036+908_3036+913delinsGTGTTA NP_001036068.1:n.3036+908_3036+913delinsGTGTTA
NM_001042603.3:c.3036+908_3036+913delinsGTGTTA MANE Select NP_001036068.1:n.3036+908_3036+913delinsGTGTTA