Canonical Allele Identifier: CA2538510331

Gene: ZMIZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79085594_79085595insTTTTCAGATGA , CM000672.2:g.79085594_79085595insTTTTCAGATGA	GRCh38
NC_000010.10:g.80845351_80845352insTTTTCAGATGA , CM000672.1:g.80845351_80845352insTTTTCAGATGA	GRCh37
NC_000010.9:g.80515357_80515358insTTTTCAGATGA	NCBI36
NG_028289.1:g.21560_21561insTTTTCAGATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334512.10:c.-337+16324_-337+16325insTTTTCAGATGA MANE Select	ENSP00000334474.5:n.-337+16324_-337+16325insTTTTCAGATGA
ENST00000334512.9:c.-337+16324_-337+16325insTTTTCAGATGA	ENSP00000334474.5:n.-337+16324_-337+16325insTTTTCAGATGA
NM_020338.3:c.-337+16324_-337+16325insTTTTCAGATGA	NP_065071.1:n.-337+16324_-337+16325insTTTTCAGATGA
XM_005269988.2:c.-337+16324_-337+16325insTTTTCAGATGA	XP_005270045.1:n.-337+16324_-337+16325insTTTTCAGATGA
XM_006717923.2:c.-334+16324_-334+16325insTTTTCAGATGA	XP_006717986.1:n.-334+16324_-334+16325insTTTTCAGATGA
XM_006717924.2:c.-256+16324_-256+16325insTTTTCAGATGA	XP_006717987.1:n.-256+16324_-256+16325insTTTTCAGATGA
XM_006717925.2:c.-337+16324_-337+16325insTTTTCAGATGA	XP_006717988.1:n.-337+16324_-337+16325insTTTTCAGATGA
XM_005269988.3:c.-337+16324_-337+16325insTTTTCAGATGA	XP_005270045.1:n.-337+16324_-337+16325insTTTTCAGATGA
XM_006717923.3:c.-334+16324_-334+16325insTTTTCAGATGA	XP_006717986.1:n.-334+16324_-334+16325insTTTTCAGATGA
XM_006717924.3:c.-256+16324_-256+16325insTTTTCAGATGA	XP_006717987.1:n.-256+16324_-256+16325insTTTTCAGATGA
XM_006717925.3:c.-337+16324_-337+16325insTTTTCAGATGA	XP_006717988.1:n.-337+16324_-337+16325insTTTTCAGATGA
NM_020338.4:c.-337+16324_-337+16325insTTTTCAGATGA MANE Select	NP_065071.1:n.-337+16324_-337+16325insTTTTCAGATGA