Canonical Allele Identifier: CA633061789

Gene: SYNE4

Linked Data

• dbSNP Id: rs1568531454
• gnomAD v2: 19-36497698-AAG-A
• gnomAD v4: 19-36006796-AAG-A
• MyVariant Identifiers: chr19:g.36497699_36497700del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006798_36006799del , CM000681.2:g.36006798_36006799del	GRCh38
NC_000019.9:g.36497700_36497701del , CM000681.1:g.36497700_36497701del	GRCh37
NC_000019.8:g.41189540_41189541del	NCBI36
NG_042831.1:g.6996_6997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.570_571del MANE Select	ENSP00000316130.3:p.Phe191ProfsTer?
ENST00000397428.8:c.67-1361_67-1360del
ENST00000465425.2:n.682_683del
ENST00000324444.7:c.570_571del	ENSP00000316130.3:p.Phe191ProfsTer?
ENST00000340477.9:c.280-127_280-126del	ENSP00000343152.5:n.280-127_280-126del
ENST00000397428.7:c.40-1361_40-1360del	ENSP00000380572.3:n.40-1361_40-1360del
ENST00000465425.1:n.682_683del
ENST00000490730.1:c.570_571del	ENSP00000422716.1:p.Phe191ProfsTer?
ENST00000503121.5:c.242+1419_242+1420del
ENST00000505054.2:n.395-1361_395-1360del
NM_001039876.1:c.570_571del	NP_001034965.1:p.Phe191ProfsTer?
NM_001039876.2:c.570_571del	NP_001034965.1:p.Phe191ProfsTer?
NM_001297735.1:c.280-127_280-126del	NP_001284664.1:n.280-127_280-126del
NM_001297735.2:c.280-127_280-126del	NP_001284664.1:n.280-127_280-126del
XM_005258598.2:c.570_571del	XP_005258655.1:p.Phe191ProfsTer?
XM_005258601.2:c.570_571del	XP_005258658.1:p.Phe191ProfsTer?
XM_005258604.3:c.570_571del	XP_005258661.1:p.Phe191ProfsTer?
NM_001039876.3:c.570_571del MANE Select	NP_001034965.1:p.Phe191ProfsTer?
NM_001297735.3:c.280-127_280-126del	NP_001284664.1:n.280-127_280-126del