Canonical Allele Identifier: CA2740098084
Community Standard Title: NM_016604.4(KDM3B):c.1309_1310del (p.Ser437ArgfsTer?)
Gene: KDM3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138386550_138386551del , CM000667.2:g.138386550_138386551del GRCh38
NC_000005.9:g.137722239_137722240del , CM000667.1:g.137722239_137722240del GRCh37
NC_000005.8:g.137750138_137750139del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016604.4:c.1309_1310del MANE Select NP_057688.3:p.Ser437ArgfsTer?
ENST00000314358.10:c.1309_1310del MANE Select ENSP00000326563.5:p.Ser437ArgfsTer?
NM_016604.3:c.1309_1310del NP_057688.2:p.Ser437ArgfsTer?
ENST00000314358.9:c.1309_1310del ENSP00000326563.5:p.Ser437ArgfsTer?
ENST00000510866.5:c.1019_1020del ENSP00000425186.1:n.1019_1020del
ENST00000542866.2:c.-7+6871_-7+6872del ENSP00000439462.2:n.-7+6871_-7+6872del
XM_005272018.3:c.781-4463_781-4462del XP_005272075.1:n.781-4463_781-4462del
XM_005272018.4:c.781-4463_781-4462del XP_005272075.1:n.781-4463_781-4462del
XM_011543488.1:c.1177_1178del XP_011541790.1:p.Ser393ArgfsTer?
XM_011543488.2:c.1177_1178del XP_011541790.1:p.Ser393ArgfsTer?
XM_011543489.1:c.1165_1166del XP_011541791.1:p.Ser389ArgfsTer?
XM_011543489.2:c.1165_1166del XP_011541791.1:p.Ser389ArgfsTer?
XM_017009584.1:c.562_563del XP_016865073.1:p.Ser188ArgfsTer?
XM_024446115.1:c.835_836del XP_024301883.1:p.Ser279ArgfsTer?