Canonical Allele Identifier: CA2333926054

Gene: SYNE4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006796_36006798delinsAAG , CM000681.2:g.36006796_36006798delinsAAG	GRCh38
NC_000019.9:g.36497698_36497700delinsAAG , CM000681.1:g.36497698_36497700delinsAAG	GRCh37
NC_000019.8:g.41189538_41189540delinsAAG	NCBI36
NG_042831.1:g.6996_6998delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.570_572delinsCTT MANE Select	ENSP00000316130.3:p.Ile190=
ENST00000397428.8:c.67-1361_67-1359delinsCTT
ENST00000465425.2:n.682_684delinsCTT
ENST00000324444.7:c.570_572delinsCTT	ENSP00000316130.3:p.Ile190=
ENST00000340477.9:c.280-127_280-125delinsCTT	ENSP00000343152.5:n.280-127_280-125delinsCTT
ENST00000397428.7:c.40-1361_40-1359delinsCTT	ENSP00000380572.3:n.40-1361_40-1359delinsCTT
ENST00000465425.1:n.682_684delinsCTT
ENST00000490730.1:c.570_572delinsCTT	ENSP00000422716.1:p.Ile190=
ENST00000503121.5:c.242+1419_242+1421delinsCTT
ENST00000505054.2:n.395-1361_395-1359delinsCTT
NM_001039876.1:c.570_572delinsCTT	NP_001034965.1:p.Ile190=
NM_001039876.2:c.570_572delinsCTT	NP_001034965.1:p.Ile190=
NM_001297735.1:c.280-127_280-125delinsCTT	NP_001284664.1:n.280-127_280-125delinsCTT
NM_001297735.2:c.280-127_280-125delinsCTT	NP_001284664.1:n.280-127_280-125delinsCTT
XM_005258598.2:c.570_572delinsCTT	XP_005258655.1:p.Ile190=
XM_005258601.2:c.570_572delinsCTT	XP_005258658.1:p.Ile190=
XM_005258604.3:c.570_572delinsCTT	XP_005258661.1:p.Ile190=
NM_001039876.3:c.570_572delinsCTT MANE Select	NP_001034965.1:p.Ile190=
NM_001297735.3:c.280-127_280-125delinsCTT	NP_001284664.1:n.280-127_280-125delinsCTT