Canonical Allele Identifier: CA2580094849
Gene: KDM6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7852166del , CM000679.2:g.7852166del GRCh38
NC_000017.10:g.7755484del , CM000679.1:g.7755484del GRCh37
NC_000017.9:g.7696209del NCBI36
NG_053032.1:g.22967del

Transcript Alleles

HGVS Amino-acid Change
NM_001348716.2:c.4298del MANE Select NP_001335645.1:p.Leu1433Ter
ENST00000448097.7:c.4298del MANE Select ENSP00000412513.2:p.Leu1433Ter
NM_001080424.1:c.4298del NP_001073893.1:p.Leu1433Ter
NM_001080424.2:c.4298del NP_001073893.1:p.Leu1433Ter
NM_001348716.1:c.4298del NP_001335645.1:p.Leu1433Ter
ENST00000254846.9:c.4298del ENSP00000254846.5:p.Leu1433Ter
ENST00000448097.6:c.4298del ENSP00000412513.2:p.Leu1433Ter
XM_005256549.2:c.4298del XP_005256606.1:p.Leu1433Ter
XM_005256549.3:c.4298del XP_005256606.1:p.Leu1433Ter
XM_005256550.3:c.4298del XP_005256607.1:p.Leu1433Ter
XM_005256550.4:c.4298del XP_005256607.1:p.Leu1433Ter
XM_005256551.2:c.4298del XP_005256608.1:p.Leu1433Ter
XM_005256551.3:c.4298del XP_005256608.1:p.Leu1433Ter
XM_005256552.3:c.4298del XP_005256609.1:p.Leu1433Ter
XM_005256552.5:c.4298del XP_005256609.1:p.Leu1433Ter
XM_005256554.3:c.4298del XP_005256611.1:p.Leu1433Ter
XM_006721483.2:c.4298del XP_006721546.1:p.Leu1433Ter
XM_006721483.3:c.4298del XP_006721546.1:p.Leu1433Ter
XM_006721484.2:c.4298del XP_006721547.1:p.Leu1433Ter
XM_011523750.1:c.4298del XP_011522052.1:p.Leu1433Ter
XM_011523750.2:c.4298del XP_011522052.1:p.Leu1433Ter
XM_011523751.1:c.4298del XP_011522053.1:p.Leu1433Ter
XM_011523752.1:c.4298del XP_011522054.1:p.Leu1433Ter
XM_011523752.3:c.4298del XP_011522054.1:p.Leu1433Ter
XM_011523753.1:c.4298del XP_011522055.1:p.Leu1433Ter
XM_011523754.1:c.4298del XP_011522056.1:p.Leu1433Ter