Canonical Allele Identifier: CA930280888

Gene: ZMIZ1

Linked Data

• dbSNP Id: rs1842795066
• gnomAD v3: 10-79085808-CAGTGGCCAGGGACCTG-C
• gnomAD v4: 10-79085808-CAGTGGCCAGGGACCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79085817_79085832del , CM000672.2:g.79085817_79085832del	GRCh38
NC_000010.10:g.80845574_80845589del , CM000672.1:g.80845574_80845589del	GRCh37
NC_000010.9:g.80515580_80515595del	NCBI36
NG_028289.1:g.21783_21798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334512.10:c.-337+16547_-337+16562del MANE Select	ENSP00000334474.5:n.-337+16547_-337+16562del
ENST00000334512.9:c.-337+16547_-337+16562del	ENSP00000334474.5:n.-337+16547_-337+16562del
NM_020338.3:c.-337+16547_-337+16562del	NP_065071.1:n.-337+16547_-337+16562del
XM_005269988.2:c.-337+16547_-337+16562del	XP_005270045.1:n.-337+16547_-337+16562del
XM_006717923.2:c.-334+16547_-334+16562del	XP_006717986.1:n.-334+16547_-334+16562del
XM_006717924.2:c.-256+16547_-256+16562del	XP_006717987.1:n.-256+16547_-256+16562del
XM_006717925.2:c.-337+16547_-337+16562del	XP_006717988.1:n.-337+16547_-337+16562del
XM_005269988.3:c.-337+16547_-337+16562del	XP_005270045.1:n.-337+16547_-337+16562del
XM_006717923.3:c.-334+16547_-334+16562del	XP_006717986.1:n.-334+16547_-334+16562del
XM_006717924.3:c.-256+16547_-256+16562del	XP_006717987.1:n.-256+16547_-256+16562del
XM_006717925.3:c.-337+16547_-337+16562del	XP_006717988.1:n.-337+16547_-337+16562del
NM_020338.4:c.-337+16547_-337+16562del MANE Select	NP_065071.1:n.-337+16547_-337+16562del