Canonical Allele Identifier: CA2333925960

Gene: SYNE4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006623_36006628delinsCTCCCT , CM000681.2:g.36006623_36006628delinsCTCCCT	GRCh38
NC_000019.9:g.36497525_36497530delinsCTCCCT , CM000681.1:g.36497525_36497530delinsCTCCCT	GRCh37
NC_000019.8:g.41189365_41189370delinsCTCCCT	NCBI36
NG_042831.1:g.7166_7171delinsAGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.662_667delinsAGGGAG MANE Select	ENSP00000316130.3:p.Glu221=
ENST00000397428.8:c.67-1191_67-1186delinsAGGGAG
ENST00000465425.2:n.774_779delinsAGGGAG
ENST00000324444.7:c.662_667delinsAGGGAG	ENSP00000316130.3:p.Glu221=
ENST00000340477.9:c.323_328delinsAGGGAG	ENSP00000343152.5:p.Glu108=
ENST00000397428.7:c.40-1191_40-1186delinsAGGGAG	ENSP00000380572.3:n.40-1191_40-1186delinsAGGGAG
ENST00000465425.1:n.774_779delinsAGGGAG
ENST00000490730.1:c.662_667delinsAGGGAG	ENSP00000422716.1:p.Glu221=
ENST00000503121.5:c.242+1589_242+1594delinsAGGGAG
ENST00000505054.2:n.395-1191_395-1186delinsAGGGAG
NM_001039876.1:c.662_667delinsAGGGAG	NP_001034965.1:p.Glu221=
NM_001039876.2:c.662_667delinsAGGGAG	NP_001034965.1:p.Glu221=
NM_001297735.1:c.323_328delinsAGGGAG	NP_001284664.1:p.Glu108=
NM_001297735.2:c.323_328delinsAGGGAG	NP_001284664.1:p.Glu108=
XM_005258598.2:c.662_667delinsAGGGAG	XP_005258655.1:p.Glu221=
XM_005258601.2:c.618+122_618+127delinsAGGGAG	XP_005258658.1:n.618+122_618+127delinsAGGGAG
XM_005258604.3:c.662_667delinsAGGGAG	XP_005258661.1:p.Glu221=
NM_001039876.3:c.662_667delinsAGGGAG MANE Select	NP_001034965.1:p.Glu221=
NM_001297735.3:c.323_328delinsAGGGAG	NP_001284664.1:p.Glu108=