Canonical Allele Identifier: CA2333925878

Gene: SYNE4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006460_36006462delinsCCA , CM000681.2:g.36006460_36006462delinsCCA	GRCh38
NC_000019.9:g.36497362_36497364delinsCCA , CM000681.1:g.36497362_36497364delinsCCA	GRCh37
NC_000019.8:g.41189202_41189204delinsCCA	NCBI36
NG_042831.1:g.7332_7334delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.828_830delinsTGG MANE Select	ENSP00000316130.3:p.Cys276=
ENST00000397428.8:c.67-1025_67-1023delinsTGG
ENST00000465425.2:n.940_942delinsTGG
ENST00000324444.7:c.828_830delinsTGG	ENSP00000316130.3:p.Cys276=
ENST00000340477.9:c.489_491delinsTGG	ENSP00000343152.5:p.Cys163=
ENST00000397428.7:c.40-1025_40-1023delinsTGG	ENSP00000380572.3:n.40-1025_40-1023delinsTGG
ENST00000465425.1:n.940_942delinsTGG
ENST00000490730.1:c.688+140_688+142delinsTGG	ENSP00000422716.1:n.688+140_688+142delinsTGG
ENST00000503121.5:c.242+1755_242+1757delinsTGG
ENST00000505054.2:n.395-1025_395-1023delinsTGG
NM_001039876.1:c.828_830delinsTGG	NP_001034965.1:p.Cys276=
NM_001039876.2:c.828_830delinsTGG	NP_001034965.1:p.Cys276=
NM_001297735.1:c.489_491delinsTGG	NP_001284664.1:p.Cys163=
NM_001297735.2:c.489_491delinsTGG	NP_001284664.1:p.Cys163=
XM_005258598.2:c.688+140_688+142delinsTGG	XP_005258655.1:n.688+140_688+142delinsTGG
XM_005258601.2:c.618+288_618+290delinsTGG	XP_005258658.1:n.618+288_618+290delinsTGG
XM_005258604.3:c.688+140_688+142delinsTGG	XP_005258661.1:n.688+140_688+142delinsTGG
NM_001039876.3:c.828_830delinsTGG MANE Select	NP_001034965.1:p.Cys276=
NM_001297735.3:c.489_491delinsTGG	NP_001284664.1:p.Cys163=