Canonical Allele Identifier: CA2333926077

Gene: SYNE4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006841_36006857delinsAGGGCTGCCCAGGCCCT , CM000681.2:g.36006841_36006857delinsAGGGCTGCCCAGGCCCT	GRCh38
NC_000019.9:g.36497743_36497759delinsAGGGCTGCCCAGGCCCT , CM000681.1:g.36497743_36497759delinsAGGGCTGCCCAGGCCCT	GRCh37
NC_000019.8:g.41189583_41189599delinsAGGGCTGCCCAGGCCCT	NCBI36
NG_042831.1:g.6937_6953delinsAGGGCCTGGGCAGCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.511_527delinsAGGGCCTGGGCAGCCCT MANE Select	ENSP00000316130.3:p.Arg171=
ENST00000397428.8:c.67-1420_67-1404delinsAGGGCCTGGGCAGCCCT
ENST00000465425.2:n.623_639delinsAGGGCCTGGGCAGCCCT
ENST00000324444.7:c.511_527delinsAGGGCCTGGGCAGCCCT	ENSP00000316130.3:p.Arg171=
ENST00000340477.9:c.280-186_280-170delinsAGGGCCTGGGCAGCCCT	ENSP00000343152.5:n.280-186_280-170delinsAGGGCCTGGGCAGCCCT
ENST00000397428.7:c.40-1420_40-1404delinsAGGGCCTGGGCAGCCCT	ENSP00000380572.3:n.40-1420_40-1404delinsAGGGCCTGGGCAGCCCT
ENST00000465425.1:n.623_639delinsAGGGCCTGGGCAGCCCT
ENST00000490730.1:c.511_527delinsAGGGCCTGGGCAGCCCT	ENSP00000422716.1:p.Arg171=
ENST00000503121.5:c.242+1360_242+1376delinsAGGGCCTGGGCAGCCCT
ENST00000505054.2:n.394+1360_394+1376delinsAGGGCCTGGGCAGCCCT
NM_001039876.1:c.511_527delinsAGGGCCTGGGCAGCCCT	NP_001034965.1:p.Arg171=
NM_001039876.2:c.511_527delinsAGGGCCTGGGCAGCCCT	NP_001034965.1:p.Arg171=
NM_001297735.1:c.280-186_280-170delinsAGGGCCTGGGCAGCCCT	NP_001284664.1:n.280-186_280-170delinsAGGGCCTGGGCAGCCCT
NM_001297735.2:c.280-186_280-170delinsAGGGCCTGGGCAGCCCT	NP_001284664.1:n.280-186_280-170delinsAGGGCCTGGGCAGCCCT
XM_005258598.2:c.511_527delinsAGGGCCTGGGCAGCCCT	XP_005258655.1:p.Arg171=
XM_005258601.2:c.511_527delinsAGGGCCTGGGCAGCCCT	XP_005258658.1:p.Arg171=
XM_005258604.3:c.511_527delinsAGGGCCTGGGCAGCCCT	XP_005258661.1:p.Arg171=
NM_001039876.3:c.511_527delinsAGGGCCTGGGCAGCCCT MANE Select	NP_001034965.1:p.Arg171=
NM_001297735.3:c.280-186_280-170delinsAGGGCCTGGGCAGCCCT	NP_001284664.1:n.280-186_280-170delinsAGGGCCTGGGCAGCCCT