Canonical Allele Identifier: CA5572314

Gene: ZMIZ1

Linked Data

• dbSNP Id: rs768393802
• ExAC: 10:81045261 CTG / C
• gnomAD v2: 10-81045261-CTG-C
• gnomAD v4: 10-79285504-CTG-C
• MyVariant Identifiers: chr10:g.81045262_81045263del (hg19) ; chr10:g.79285505_79285506del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79285508_79285509del , CM000672.2:g.79285508_79285509del	GRCh38
NC_000010.10:g.81045265_81045266del , CM000672.1:g.81045265_81045266del	GRCh37
NC_000010.9:g.80715271_80715272del	NCBI36
NG_028289.1:g.221474_221475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334512.10:c.426-4267_426-4266del MANE Select	ENSP00000334474.5:n.426-4267_426-4266del
ENST00000334512.9:c.426-4267_426-4266del	ENSP00000334474.5:n.426-4267_426-4266del
ENST00000446377.3:c.56_57del	ENSP00000401558.3:p.Cys19SerfsTer?
ENST00000472035.5:n.216-4267_216-4266del
ENST00000478357.1:n.148-4267_148-4266del
ENST00000611351.1:c.426-4267_426-4266del	ENSP00000481736.1:n.426-4267_426-4266del
NM_020338.3:c.426-4267_426-4266del	NP_065071.1:n.426-4267_426-4266del
XM_005269987.3:c.426-4267_426-4266del	XP_005270044.1:n.426-4267_426-4266del
XM_005269988.2:c.426-4267_426-4266del	XP_005270045.1:n.426-4267_426-4266del
XM_006717923.2:c.426-4267_426-4266del	XP_006717986.1:n.426-4267_426-4266del
XM_006717924.2:c.426-4267_426-4266del	XP_006717987.1:n.426-4267_426-4266del
XM_006717925.2:c.426-4267_426-4266del	XP_006717988.1:n.426-4267_426-4266del
XM_011539978.1:c.54-4267_54-4266del	XP_011538280.1:n.54-4267_54-4266del
XM_011539979.1:c.54-4267_54-4266del	XP_011538281.1:n.54-4267_54-4266del
XM_011539980.1:c.54-4267_54-4266del	XP_011538282.1:n.54-4267_54-4266del
XM_005269987.5:c.426-4267_426-4266del	XP_005270044.1:n.426-4267_426-4266del
XM_005269988.3:c.426-4267_426-4266del	XP_005270045.1:n.426-4267_426-4266del
XM_006717923.3:c.426-4267_426-4266del	XP_006717986.1:n.426-4267_426-4266del
XM_006717924.3:c.426-4267_426-4266del	XP_006717987.1:n.426-4267_426-4266del
XM_006717925.3:c.426-4267_426-4266del	XP_006717988.1:n.426-4267_426-4266del
XM_011539978.2:c.54-4267_54-4266del	XP_011538280.1:n.54-4267_54-4266del
XM_011539980.3:c.54-4267_54-4266del	XP_011538282.1:n.54-4267_54-4266del
XM_017016440.2:c.273-4267_273-4266del	XP_016871929.1:n.273-4267_273-4266del
XM_017016441.1:c.54-4267_54-4266del	XP_016871930.1:n.54-4267_54-4266del
XM_017016442.1:c.54-4267_54-4266del	XP_016871931.1:n.54-4267_54-4266del
XM_017016443.1:c.54-4267_54-4266del	XP_016871932.1:n.54-4267_54-4266del
NM_020338.4:c.426-4267_426-4266del MANE Select	NP_065071.1:n.426-4267_426-4266del