Canonical Allele Identifier: CA2584626447

Gene: SYNE4

Linked Data

• gnomAD v4: 19-36006483-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006484dup , CM000681.2:g.36006484dup	GRCh38
NC_000019.9:g.36497386dup , CM000681.1:g.36497386dup	GRCh37
NC_000019.8:g.41189226dup	NCBI36
NG_042831.1:g.7310dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.806dup MANE Select	ENSP00000316130.3:p.Gly270ArgfsTer5
ENST00000397428.8:c.67-1047dup
ENST00000465425.2:n.918dup
ENST00000324444.7:c.806dup	ENSP00000316130.3:p.Gly270ArgfsTer5
ENST00000340477.9:c.467dup	ENSP00000343152.5:p.Gly157ArgfsTer5
ENST00000397428.7:c.40-1047dup	ENSP00000380572.3:n.40-1047dup
ENST00000465425.1:n.918dup
ENST00000490730.1:c.688+118dup	ENSP00000422716.1:n.688+118dup
ENST00000503121.5:c.242+1733dup
ENST00000505054.2:n.395-1047dup
NM_001039876.1:c.806dup	NP_001034965.1:p.Gly270ArgfsTer5
NM_001039876.2:c.806dup	NP_001034965.1:p.Gly270ArgfsTer5
NM_001297735.1:c.467dup	NP_001284664.1:p.Gly157ArgfsTer5
NM_001297735.2:c.467dup	NP_001284664.1:p.Gly157ArgfsTer5
XM_005258598.2:c.688+118dup	XP_005258655.1:n.688+118dup
XM_005258601.2:c.618+266dup	XP_005258658.1:n.618+266dup
XM_005258604.3:c.688+118dup	XP_005258661.1:n.688+118dup
NM_001039876.3:c.806dup MANE Select	NP_001034965.1:p.Gly270ArgfsTer5
NM_001297735.3:c.467dup	NP_001284664.1:p.Gly157ArgfsTer5