Canonical Allele Identifier: CA2580072824
Community Standard Title: NM_016604.4(KDM3B):c.2743_2745del (p.Arg915del)
Gene: KDM3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138393284_138393286del , CM000667.2:g.138393284_138393286del GRCh38
NC_000005.9:g.137728973_137728975del , CM000667.1:g.137728973_137728975del GRCh37
NC_000005.8:g.137756872_137756874del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016604.4:c.2743_2745del MANE Select NP_057688.3:p.Arg915del
ENST00000314358.10:c.2743_2745del MANE Select ENSP00000326563.5:p.Arg915del
NM_016604.3:c.2743_2745del NP_057688.2:p.Arg915del
ENST00000314358.9:c.2743_2745del ENSP00000326563.5:p.Arg915del
ENST00000507996.5:c.159_161del ENSP00000423012.1:n.159_161del
ENST00000510866.5:c.2453_2455del ENSP00000425186.1:n.2453_2455del
ENST00000542866.2:c.-6-5063_-6-5061del ENSP00000439462.2:n.-6-5063_-6-5061del
XM_005272018.3:c.2143_2145del XP_005272075.1:p.Arg715del
XM_005272018.4:c.2143_2145del XP_005272075.1:p.Arg715del
XM_011543488.1:c.2611_2613del XP_011541790.1:p.Arg871del
XM_011543488.2:c.2611_2613del XP_011541790.1:p.Arg871del
XM_011543489.1:c.2599_2601del XP_011541791.1:p.Arg867del
XM_011543489.2:c.2599_2601del XP_011541791.1:p.Arg867del
XM_017009584.1:c.1996_1998del XP_016865073.1:p.Arg666del
XM_024446115.1:c.2269_2271del XP_024301883.1:p.Arg757del