Canonical Allele Identifier: CA307815623

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 2808646
• ClinVar RCV Id: RCV003677077
• dbSNP Id: rs924796934
• MyVariant Identifiers: chr19:g.36497363_36497364del (hg19) ; chr19:g.36006461_36006462del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006465_36006466del , CM000681.2:g.36006465_36006466del	GRCh38
NC_000019.9:g.36497367_36497368del , CM000681.1:g.36497367_36497368del	GRCh37
NC_000019.8:g.41189207_41189208del	NCBI36
NG_042831.1:g.7332_7333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.828_829del MANE Select	ENSP00000316130.3:p.Cys276TrpfsTer13
ENST00000397428.8:c.67-1025_67-1024del
ENST00000465425.2:n.940_941del
ENST00000324444.7:c.828_829del	ENSP00000316130.3:p.Cys276TrpfsTer13
ENST00000340477.9:c.489_490del	ENSP00000343152.5:p.Cys163TrpfsTer13
ENST00000397428.7:c.40-1025_40-1024del	ENSP00000380572.3:n.40-1025_40-1024del
ENST00000465425.1:n.940_941del
ENST00000490730.1:c.688+140_688+141del	ENSP00000422716.1:n.688+140_688+141del
ENST00000503121.5:c.242+1755_242+1756del
ENST00000505054.2:n.395-1025_395-1024del
NM_001039876.1:c.828_829del	NP_001034965.1:p.Cys276TrpfsTer13
NM_001039876.2:c.828_829del	NP_001034965.1:p.Cys276TrpfsTer13
NM_001297735.1:c.489_490del	NP_001284664.1:p.Cys163TrpfsTer13
NM_001297735.2:c.489_490del	NP_001284664.1:p.Cys163TrpfsTer13
XM_005258598.2:c.688+140_688+141del	XP_005258655.1:n.688+140_688+141del
XM_005258601.2:c.618+288_618+289del	XP_005258658.1:n.618+288_618+289del
XM_005258604.3:c.688+140_688+141del	XP_005258661.1:n.688+140_688+141del
NM_001039876.3:c.828_829del MANE Select	NP_001034965.1:p.Cys276TrpfsTer13
NM_001297735.3:c.489_490del	NP_001284664.1:p.Cys163TrpfsTer13