Canonical Allele Identifier: CA658799192

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 504047
• ClinVar RCV Id: RCV000599276
• dbSNP Id: rs1555785625
• MyVariant Identifiers: chr19:g.36497744_36497759del (hg19) ; chr19:g.36006842_36006857del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006847_36006862del , CM000681.2:g.36006847_36006862del	GRCh38
NC_000019.9:g.36497749_36497764del , CM000681.1:g.36497749_36497764del	GRCh37
NC_000019.8:g.41189589_41189604del	NCBI36
NG_042831.1:g.6937_6952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.511_526del MANE Select	ENSP00000316130.3:p.Arg171TrpfsTer?
ENST00000397428.8:c.67-1420_67-1405del
ENST00000465425.2:n.623_638del
ENST00000324444.7:c.511_526del	ENSP00000316130.3:p.Arg171TrpfsTer?
ENST00000340477.9:c.280-186_280-171del	ENSP00000343152.5:n.280-186_280-171del
ENST00000397428.7:c.40-1420_40-1405del	ENSP00000380572.3:n.40-1420_40-1405del
ENST00000465425.1:n.623_638del
ENST00000490730.1:c.511_526del	ENSP00000422716.1:p.Arg171TrpfsTer?
ENST00000503121.5:c.242+1360_242+1375del
ENST00000505054.2:n.394+1360_394+1375del
NM_001039876.1:c.511_526del	NP_001034965.1:p.Arg171TrpfsTer?
NM_001039876.2:c.511_526del	NP_001034965.1:p.Arg171TrpfsTer?
NM_001297735.1:c.280-186_280-171del	NP_001284664.1:n.280-186_280-171del
NM_001297735.2:c.280-186_280-171del	NP_001284664.1:n.280-186_280-171del
XM_005258598.2:c.511_526del	XP_005258655.1:p.Arg171TrpfsTer?
XM_005258601.2:c.511_526del	XP_005258658.1:p.Arg171TrpfsTer?
XM_005258604.3:c.511_526del	XP_005258661.1:p.Arg171TrpfsTer?
NM_001039876.3:c.511_526del MANE Select	NP_001034965.1:p.Arg171TrpfsTer?
NM_001297735.3:c.280-186_280-171del	NP_001284664.1:n.280-186_280-171del