Canonical Allele Identifier: CA2573050906
Gene: KDM6B HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7849334dup , CM000679.2:g.7849334dup GRCh38
NC_000017.10:g.7752652dup , CM000679.1:g.7752652dup GRCh37
NC_000017.9:g.7693377dup NCBI36
NG_053032.1:g.20135dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000448097.7:c.3046dup MANE Select ENSP00000412513.2:p.Arg1016ProfsTer17
ENST00000254846.9:c.3046dup ENSP00000254846.5:p.Arg1016ProfsTer17
ENST00000448097.6:c.3046dup ENSP00000412513.2:p.Arg1016ProfsTer17
NM_001080424.1:c.3046dup NP_001073893.1:p.Arg1016ProfsTer17
XM_005256549.2:c.3046dup XP_005256606.1:p.Arg1016ProfsTer17
XM_005256550.3:c.3046dup XP_005256607.1:p.Arg1016ProfsTer17
XM_005256551.2:c.3046dup XP_005256608.1:p.Arg1016ProfsTer17
XM_005256552.3:c.3046dup XP_005256609.1:p.Arg1016ProfsTer17
XM_005256554.3:c.3046dup XP_005256611.1:p.Arg1016ProfsTer17
XM_006721483.2:c.3046dup XP_006721546.1:p.Arg1016ProfsTer17
XM_006721484.2:c.3046dup XP_006721547.1:p.Arg1016ProfsTer17
XM_011523750.1:c.3046dup XP_011522052.1:p.Arg1016ProfsTer17
XM_011523751.1:c.3046dup XP_011522053.1:p.Arg1016ProfsTer17
XM_011523752.1:c.3046dup XP_011522054.1:p.Arg1016ProfsTer17
XM_011523753.1:c.3046dup XP_011522055.1:p.Arg1016ProfsTer17
XM_011523754.1:c.3046dup XP_011522056.1:p.Arg1016ProfsTer17
NM_001080424.2:c.3046dup NP_001073893.1:p.Arg1016ProfsTer17
NM_001348716.1:c.3046dup NP_001335645.1:p.Arg1016ProfsTer17
XM_005256549.3:c.3046dup XP_005256606.1:p.Arg1016ProfsTer17
XM_005256550.4:c.3046dup XP_005256607.1:p.Arg1016ProfsTer17
XM_005256551.3:c.3046dup XP_005256608.1:p.Arg1016ProfsTer17
XM_005256552.5:c.3046dup XP_005256609.1:p.Arg1016ProfsTer17
XM_006721483.3:c.3046dup XP_006721546.1:p.Arg1016ProfsTer17
XM_011523750.2:c.3046dup XP_011522052.1:p.Arg1016ProfsTer17
XM_011523752.3:c.3046dup XP_011522054.1:p.Arg1016ProfsTer17
NM_001348716.2:c.3046dup MANE Select NP_001335645.1:p.Arg1016ProfsTer17