Canonical Allele Identifier: CA2697558643
Community Standard Title: NM_020338.4(ZMIZ1):c.2058_2066del (p.Arg688_Val690del)
Gene: ZMIZ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.79302145_79302153del , CM000672.2:g.79302145_79302153del GRCh38
NC_000010.10:g.81061902_81061910del , CM000672.1:g.81061902_81061910del GRCh37
NC_000010.9:g.80731908_80731916del NCBI36
NG_028289.1:g.238111_238119del

Transcript Alleles

HGVS Amino-acid Change
NM_020338.4:c.2058_2066del MANE Select NP_065071.1:p.Val687_Ser689del
ENST00000334512.10:c.2058_2066del MANE Select ENSP00000334474.5:p.Val687_Ser689del
NM_020338.3:c.2058_2066del NP_065071.1:p.Val687_Ser689del
ENST00000334512.9:c.2058_2066del ENSP00000334474.5:p.Val687_Ser689del
ENST00000446377.3:c.1773_1781del ENSP00000401558.3:p.Val592_Ser594del
ENST00000611351.1:c.459-11909_459-11901del ENSP00000481736.1:n.459-11909_459-11901del
XM_005269987.3:c.2076_2084del XP_005270044.1:p.Val693_Ser695del
XM_005269987.5:c.2076_2084del XP_005270044.1:p.Val693_Ser695del
XM_005269988.2:c.2076_2084del XP_005270045.1:p.Val693_Ser695del
XM_005269988.3:c.2076_2084del XP_005270045.1:p.Val693_Ser695del
XM_006717923.2:c.2076_2084del XP_006717986.1:p.Val693_Ser695del
XM_006717923.3:c.2076_2084del XP_006717986.1:p.Val693_Ser695del
XM_006717924.2:c.2076_2084del XP_006717987.1:p.Val693_Ser695del
XM_006717924.3:c.2076_2084del XP_006717987.1:p.Val693_Ser695del
XM_006717925.2:c.2076_2084del XP_006717988.1:p.Val693_Ser695del
XM_006717925.3:c.2076_2084del XP_006717988.1:p.Val693_Ser695del
XM_011539978.1:c.1704_1712del XP_011538280.1:p.Val569_Ser571del
XM_011539978.2:c.1704_1712del XP_011538280.1:p.Val569_Ser571del
XM_011539979.1:c.1704_1712del XP_011538281.1:p.Val569_Ser571del
XM_011539980.1:c.1686_1694del XP_011538282.1:p.Val563_Ser565del
XM_011539980.3:c.1686_1694del XP_011538282.1:p.Val563_Ser565del
XM_017016440.2:c.1923_1931del XP_016871929.1:p.Val642_Ser644del
XM_017016441.1:c.1704_1712del XP_016871930.1:p.Val569_Ser571del
XM_017016442.1:c.1686_1694del XP_016871931.1:p.Val563_Ser565del
XM_017016443.1:c.1704_1712del XP_016871932.1:p.Val569_Ser571del