Canonical Allele Identifier: CA8360507

Gene: KDM6B

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7847280_7847283del , CM000679.2:g.7847280_7847283del	GRCh38
NC_000017.10:g.7750598_7750601del , CM000679.1:g.7750598_7750601del	GRCh37
NC_000017.9:g.7691323_7691326del	NCBI36
NG_053032.1:g.18081_18084del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448097.7:c.1085_1088del MANE Select	ENSP00000412513.2:p.Glu362AlafsTer?
ENST00000254846.9:c.1085_1088del	ENSP00000254846.5:p.Glu362AlafsTer?
ENST00000448097.6:c.1085_1088del	ENSP00000412513.2:p.Glu362AlafsTer?
ENST00000570632.1:c.887_890del	ENSP00000458445.1:p.Glu296AlafsTer?
NM_001080424.1:c.1085_1088del	NP_001073893.1:p.Glu362AlafsTer?
XM_005256549.2:c.1085_1088del	XP_005256606.1:p.Glu362AlafsTer?
XM_005256550.3:c.1085_1088del	XP_005256607.1:p.Glu362AlafsTer?
XM_005256551.2:c.1085_1088del	XP_005256608.1:p.Glu362AlafsTer?
XM_005256552.3:c.1085_1088del	XP_005256609.1:p.Glu362AlafsTer?
XM_005256554.3:c.1085_1088del	XP_005256611.1:p.Glu362AlafsTer?
XM_006721483.2:c.1085_1088del	XP_006721546.1:p.Glu362AlafsTer?
XM_006721484.2:c.1085_1088del	XP_006721547.1:p.Glu362AlafsTer?
XM_011523750.1:c.1085_1088del	XP_011522052.1:p.Glu362AlafsTer?
XM_011523751.1:c.1085_1088del	XP_011522053.1:p.Glu362AlafsTer?
XM_011523752.1:c.1085_1088del	XP_011522054.1:p.Glu362AlafsTer?
XM_011523753.1:c.1085_1088del	XP_011522055.1:p.Glu362AlafsTer?
XM_011523754.1:c.1085_1088del	XP_011522056.1:p.Glu362AlafsTer?
NM_001080424.2:c.1085_1088del	NP_001073893.1:p.Glu362AlafsTer?
NM_001348716.1:c.1085_1088del	NP_001335645.1:p.Glu362AlafsTer?
XM_005256549.3:c.1085_1088del	XP_005256606.1:p.Glu362AlafsTer?
XM_005256550.4:c.1085_1088del	XP_005256607.1:p.Glu362AlafsTer?
XM_005256551.3:c.1085_1088del	XP_005256608.1:p.Glu362AlafsTer?
XM_005256552.5:c.1085_1088del	XP_005256609.1:p.Glu362AlafsTer?
XM_006721483.3:c.1085_1088del	XP_006721546.1:p.Glu362AlafsTer?
XM_011523750.2:c.1085_1088del	XP_011522052.1:p.Glu362AlafsTer?
XM_011523752.3:c.1085_1088del	XP_011522054.1:p.Glu362AlafsTer?
NM_001348716.2:c.1085_1088del MANE Select	NP_001335645.1:p.Glu362AlafsTer?