Canonical Allele Identifier: CA9901821
Community Standard Title: NM_021035.3(ZNFX1):c.4815_4818del (p.Glu1606ArgfsTer10)
Gene: ZNFX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49248211_49248214del , CM000682.2:g.49248211_49248214del GRCh38
NC_000020.10:g.47864748_47864751del , CM000682.1:g.47864748_47864751del GRCh37
NC_000020.9:g.47298155_47298158del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_021035.3:c.4815_4818del MANE Select NP_066363.1:p.Glu1606ArgfsTer10
ENST00000396105.6:c.4815_4818del MANE Select ENSP00000379412.1:p.Glu1606ArgfsTer10
NM_021035.2:c.4815_4818del NP_066363.1:p.Glu1606ArgfsTer10
ENST00000371752.5:c.4815_4818del ENSP00000360817.1:p.Glu1606ArgfsTer10
ENST00000371754.8:c.3312+3318_3312+3321del ENSP00000360819.4:n.3312+3318_3312+3321del
ENST00000396105.5:c.4815_4818del ENSP00000379412.1:p.Glu1606ArgfsTer10
XM_006723836.1:c.4815_4818del XP_006723899.1:p.Glu1606ArgfsTer10
XM_011528924.1:c.4665_4668del XP_011527226.1:p.Glu1556ArgfsTer10
XM_011528924.2:c.4665_4668del XP_011527226.1:p.Glu1556ArgfsTer10
XM_017027971.1:c.2661_2664del XP_016883460.1:p.Glu888ArgfsTer10