Canonical Allele Identifier: CA2499220398

Gene: ZMIZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79292182del , CM000672.2:g.79292182del	GRCh38
NC_000010.10:g.81051939del , CM000672.1:g.81051939del	GRCh37
NC_000010.9:g.80721945del	NCBI36
NG_028289.1:g.228148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334512.10:c.783del MANE Select	ENSP00000334474.5:p.Ala262GlnfsTer?
ENST00000334512.9:c.783del	ENSP00000334474.5:p.Ala262GlnfsTer?
ENST00000446377.3:c.553-52del	ENSP00000401558.3:n.553-52del
ENST00000478357.1:n.505del
ENST00000611351.1:c.458+2375del	ENSP00000481736.1:n.458+2375del
NM_020338.3:c.783del	NP_065071.1:p.Ala262GlnfsTer?
XM_005269987.3:c.783del	XP_005270044.1:p.Ala262GlnfsTer?
XM_005269988.2:c.783del	XP_005270045.1:p.Ala262GlnfsTer?
XM_006717923.2:c.783del	XP_006717986.1:p.Ala262GlnfsTer?
XM_006717924.2:c.783del	XP_006717987.1:p.Ala262GlnfsTer?
XM_006717925.2:c.783del	XP_006717988.1:p.Ala262GlnfsTer?
XM_011539978.1:c.411del	XP_011538280.1:p.Ala138GlnfsTer?
XM_011539979.1:c.411del	XP_011538281.1:p.Ala138GlnfsTer?
XM_011539980.1:c.411del	XP_011538282.1:p.Ala138GlnfsTer?
XM_005269987.5:c.783del	XP_005270044.1:p.Ala262GlnfsTer?
XM_005269988.3:c.783del	XP_005270045.1:p.Ala262GlnfsTer?
XM_006717923.3:c.783del	XP_006717986.1:p.Ala262GlnfsTer?
XM_006717924.3:c.783del	XP_006717987.1:p.Ala262GlnfsTer?
XM_006717925.3:c.783del	XP_006717988.1:p.Ala262GlnfsTer?
XM_011539978.2:c.411del	XP_011538280.1:p.Ala138GlnfsTer?
XM_011539980.3:c.411del	XP_011538282.1:p.Ala138GlnfsTer?
XM_017016440.2:c.630del	XP_016871929.1:p.Ala211GlnfsTer?
XM_017016441.1:c.411del	XP_016871930.1:p.Ala138GlnfsTer?
XM_017016442.1:c.411del	XP_016871931.1:p.Ala138GlnfsTer?
XM_017016443.1:c.411del	XP_016871932.1:p.Ala138GlnfsTer?
NM_020338.4:c.783del MANE Select	NP_065071.1:p.Ala262GlnfsTer?